14. HEREDITARY MOTOR AND SENSORY NEUROPATHIES (HMSN) (Return to Disease group)
Disease phenotype
Item in this table
References
Gene symbol (chromosome)
protein
Charcot-Marie-Tooth neuropathy Type 1A, demyelinating - (AD)
14.1
Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 1989 May;104(2):186-9. (2707366)
Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet. 1990 Oct;47(4):680-5. (2220808)
Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun;1(3):159-65. (1303228)
Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992 Jun;1(3):171-5. Erratum in: Nat Genet 1992 Sep;2(1):84. (1303230)
Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Bird TD, White R, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992 Jun;1(3):176-9. (1303231)
Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73. (8275092)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22
Charcot-Marie-Tooth neuropathy Type 1B, demyelinating - (AD)
14.2
Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982 May;34(3):388-94. (6952764)
Guiloff RJ, Thomas PK, Contreras M, Armitage S, Schwarz G, Sedgwick EM. Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. Ann Hum Genet. 1982 Jan 1;46(Pt 1):25-7. No abstract available. (6954871)
Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266-8. (7506095)
Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 1993 Sep;5(1):35-9. (7693130)
MPZ (1q22)
Myelin protein zero
Charcot-Marie-Tooth neuropathy Type 1C - (AD)
14.3
Street, V. A.; Goldy, J. D.; Golden, A. S.; Tempel, B. L.; Bird, T. D.; Chance, P. F. : Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am. J. Hum. Genet. 70: 244-250, 2002. (11713717)
Street, V. A.; Bennett, C. L.; Goldy, J. D.; Shirk, A. J.; Kleopa, K. A.; Tempel, B. L.; Lipe, H. P.; Scherer, S. S.; Bird, T. D.; Chance, P. F. : Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60: 22-26, 2003. (12525712)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor
Charcot-Marie-Tooth neuropathy Type 1D - (AD)
14.4
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr;18(4):382-4. (9537424)
EGR2 (10q21.1)
Early growth response 2 protein
Charcot-Marie-Tooth neuropathy Type 1E (with deafness) - (AD)
14.5
Kovach, M. J.; Lin, J.-P.; Boyadjiev, S.; Campbell, K.; Mazzeo, L.; Herman, K.; Rimer, L. A.; Frank, W.; Llewellyn, B.; Jabs, E. W.; Gelber, D.; Kimonis, V. E. : A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64: 1580-1593, 1999. (10330345)
Boerkoel, C. F.; Takashima, H.; Garcia, C. A.; Olney, R. K.; Johnson, J.; Berry, K.; Russo, P.; Kennedy, S.; Teebi, A. S.; Scavina, M.; Williams, L. L.; Mancias, P.; Butler, I. J.; Krajewski, K.; Shy, M.; Lupski, J. R. : Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51: 190-201, 2002. (11835375)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22
Hereditary Neuropathy with Liability to Pressure Palsies - (AD)
14.6
Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. Related Articles, Links DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993 Jan 15;72(1):143-51. (8422677)
Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994 Mar;6(3):263-6. Erratum in: Nat Genet 1994 May;7(1):113. (8012388)
Mariman EC, Gabreels-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreels FJ. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet. 1994 Feb;93(2):151-6. (8112739)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22
Charcot-Marie-Tooth neuropathy Type 1F - (AD)
14.7
Jordanova, A.; De Jonghe, P.; Boerkoel, C. F.; Takashima, H.; De Vriendt, E.; Ceuterick, C.; Martin, J.-J.; Butler, I. J.; Mancias, P.; Papasozomenos, S. C.; Terespolsky, D.; Potocki, L.; Brown, C. W.; Shy, M.; Rita, D. A.; Tournev, I.; Kremensky, I.; Lupski, J. R.; Timmerman, V. : Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126: 590-597, 2003. (12566280)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa
CMT with Congenital vertical talus - (AD)
14.8
Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR. A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. Am J Hum Genet. 2004 Jul;75(1):92-6. Epub 2004 May 14. (15146389)
HOXD10 (2q31.1)
Homeobox D10
Slowed nerve conduction velocity - (AD)
14.9
Nelis, E.; De Jonghe, P.; De Vriendt, E.; Patel, P. I.; Martin, J.-J.; Van Broeckhoven, C. : Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. J. Med. Genet. 35: 590-593, 1998. (14508709)
De Jonghe, P.; Timmerman, V.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Ceuterick, C.; Martin, J.-J.; Van Broeckhoven, C. : A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch. Neurol. 56: 1283-1288, 1999. (10520946)
Verhoeven, K.; De Jonghe, P.; Van de Putte, T.; Nelis, E.; Zwijsen, A.; Verpoorten, N.; De Vriendt, E.; Jacobs, A.; Van Gerwen, V.; Francis, A.; Ceuterick, C.; Huylebroeck, D.; Timmerman, V. : Slowed conduction and thin myelination of peripheral nerves associated with mutant Rho guanine-nucleotide exchange factor 10. Am. J. Hum. Genet. 73: 926-932, 2003. (9678704)
ARHGEF10 (8p23)
Rho guanine nucleotide exchange factor 10
Charcot-Marie-Tooth neuropathy, with fibulin defect - (AD)
14.10
Auer-Grumbach M, Weger M, Fink-Puches R, Papi? L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011 Jun;134(Pt 6):1839-52. Epub 2011 May 15 (21576112)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)
Charcot-Marie-Tooth neuropathy, dominant intermediate A - (AD)
14.11
Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet. 2001 Oct;69(4):889-94. Epub 2001 Aug 30. (11533914)
Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829. (26828946)
PMP2 (8q21.13)
peripheral myelin protein-2
Charcot-Marie-Tooth neuropathy, dominant intermediate B - (AD)
14.12
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30. (15731758)
DNM2 (19p13.2)
Dynamin 2
Charcot-Marie-Tooth neuropathy, dominant intermediate C - (AD)
14.13
Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet. 2003 Dec;73(6):1423-30. Epub 2003 Nov 6. (14606043)
Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22. (16429158)
YARS (1p35.1)
Tyrosyl-tRNA synthetase
Charcot-Marie-Tooth neuropathy, dominant intermediate D - (AD)
14.14
Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9. (10406984)
MPZ (1q22)
Myelin protein zero
Charcot-Marie-Tooth neuropathy with glomerulopathy - (AD)
14.15
Boyer, O., Nevo, F., Plaisier, E., Funalot, B., Gribouval, O., Benoit, G., Cong, E. H., Arrondel, C., Tete, M.-J., Montjean, R., Richard, L., Karras, A., and 21 others. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. New Eng. J. Med. 365: 2377-2388, 2011. (22187985)
INF2 (14q32-33)
Inverted formin 2
Charcot-Marie-Tooth neuropathy Type F - (AD)
14.16
Soong, B.-W., Huang, Y.-H., Tsai, P.-C., Huang, C.-C., Pan, H.-C., Lu, Y.-C., Chien, H.-J., Liu, T.-T., Chang, M.-H., Lin, K.-P., Tu, P.-H., Kao, L.-S., Lee, Y.-C. : Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 92: 422-430, 2013. (23434117)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4
Charcot-Marie-Tooth neuropathy Type 4A - (AR)
14.17
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993 Oct;2(10):1625-8. (11743579)
Baxter, R. V.; Ben Othmane, K.; Rochelle, J. M.; Stajich, J. E.; Hulette, C.; Dew-Knight, S.; Hentati, F.; Ben Hamida, M.; Bel, S.; Stenger, J. E.; Gilbert, J. R.; Pericak-Vance, M. A.; Vance, J. M. : Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30: 21-22, 2002. (8268915)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1
Charcot-Marie-Tooth neuropathy Type 4B1 - (AR)
14.18
Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet. 1996 Jul;5(7):1051-4. (10802647)
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May;25(1):17-9. (8817346)
MTMR2 (11q22)
Myotubularin-related protein 2
Charcot-Marie-Tooth neuropathy Type 4B2 - (AR)
14.19
Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8. (12687498)
Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet. 2004 Feb 1;13(3):363. (23749797)
Nakhro K PJ, Hong YB, Park JH, et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013; un 7. (12554688)
SBF2 (11p15.4)
SET binding factor 2
Charcot-Marie-Tooth neuropathy Type 4B3 - (AR)
14.20
Nakhro K PJ, Hong YB, Park JH, et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013; un 7. (23749797)
SBF1 (22q13.33)
SET binding factor 1
Charcot-Marie-Tooth neuropathy Type 4C - (AR)
14.21
LeGuern E, Guilbot A, Kessali M, Ravise N, Tassin J, Maisonobe T, Grid D, Brice A. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet. 1996 Oct;5(10):1685-8. (8894708)
SH3TC2 (5q32)
KIAA1985 protein
Charcot-Marie-Tooth neuropathy Type 4D (HMSN Lom, with deafness) - (AR)
14.22
Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 1996 Oct;14(2):214-7. (10831399)
Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30. (8841199)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1
Charcot-Marie-Tooth neuropathy Type 4E (congenital hypomyelinating myopathy) - ( )
14.23
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr;18(4):382-4. (9537424)
EGR2 (10q21.1)
Early growth response 2 protein
Charcot-Marie-Tooth neuropathy Type 4E (congenital hypomyelinating myopathy) - ( )
14.24
Warner, L. E.; Hilz, M. J.; Appel, S. H.; Killian, J. M.; Kolodny, E. H.; Karpati, G.; Carpenter, S.; Watters, G. V.; Wheeler, C.; Witt, D.; Bodell, A.; Nelis, E.; Van Broeckhoven, C.; Lupski, J. R. : Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451-460, 1996. (8816708)
MPZ (1q22)
Myelin protein zero
Charcot-Marie-Tooth neuropathy Type 4F - (AR)
14.25
Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M. Related Articles, Links Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 02. (10848494)
Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557. (11133365)
PRX (19q13)
Periaxin
Charcot-Marie-Tooth neuropathy Type 4G (type Russe) - (AR)
14.26
Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet. 2000 Sep;67(3):664-71. Epub 2000 Jul 27. (22978647)
Sevilla, T., Martinez-Rubio, D., Marquez, C., Paradas, C., Colomer, J., Jaijo, T., Millan, J. M., Palau, F., Espinos, C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 83: 565-570, 2013. (10915613)
HK1 (10q22.1)
Hexokinase 1
Charcot-Marie-Tooth neuropathy Type 4H - (AR)
14.27
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007 Jul;81(1):1-16. (17564959)
Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007 Jul;81(1):158-64. (17564972)
FGD4 (12p11.21)
Actin-filament binding protein Frabin
Charcot-Marie-Tooth neuropathy Type 4J - (AR)
14.28
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17. (17572665)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3
Charcot-Marie-Tooth neuropathy Type 4K - (AR)
14.29
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11. (24027061)
SURF1 (9q34.2)
surfeit 1
Charcot-Marie-Tooth neuropathy X-linked 1 - (XD)
14.30
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24;262(5142):2039-42. (7477983)
Bone, L. J.; Dahl, N.; Lensch, M. W.; Chance, P. F.; Kelly, T.; Le Guern, E.; Magi, S.; Parry, G.; Shapiro, H.; Wang, S.; Fischbeck, K. H. : New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45: 1863-1866, 1995. (8266101)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)
Charcot-Marie-Tooth neuropathy X-linked 2 - (XR)
14.31
Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992 Mar;15(3):368-73. (1557086)
? - (Xp22.2)
Charcot-Marie-Tooth neuropathy X-linked 3 - (XR)
14.32
Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992 Mar;15(3):368-73. (1557086)
Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology. 2006 Dec 12;67(11):2016-21. (17159110)
? - (Xq26)
Charcot-Marie-Tooth neuropathy X-linked 4 (Cowchock syndrome) - (XR)
14.33
Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. 1995 Sep 20;29(2):409-12. (23217327)
Rinaldi C, Grunseich C, Sevrioukova IF, et al. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am. J. Hum. Genet. 2012;91:1095–1102. (8666389)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, mitochondrionassociated 1
Charcot-Marie-Tooth neuropathy X-linked 5 (with hearing loss and optic neuropathy) - (XR)
14.34
Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29. (17701900)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1
Charcot-Marie-Tooth neuropathy X-linked 6 - (XD)
14.35
Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S.-C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Zuchner, S., Ryan, M. M., Nicholson, G. A. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum. Molec. Genet. 22: 1404-1416, 2013. (23297365)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3
Dejerine-Sottas hypertrophic neuropathy, dominant - (AD)
14.36
Roa BB, Dyck PJ, Marks HG, Chance PF. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73. (8275092)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22
Dejerine-Sottas hypertrophic neuropathy, dominant - (AD)
14.37
Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266-8. (7506095)
MPZ (1q22)
Myelin protein zero
Dejerine-Sottas hypertrophic neuropathy, dominant - (AD digenic)
14.38
Chung, K. W.; Sunwoo, I. N.; Kim, S. M.; Park, K. D.; Kim, W.-K.; Kim, T. S.; Koo, H.; Cho, M.; Lee, J.; Choi, B. O. : Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6: 159-163, 2005. (15947997)
EGR2 (10q21.1)
Early growth response 2 protein
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)
Dejerine-Sottas hypertrophic neuropathy, recessive - (AR)
14.39
Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557. (11133365)
PRX (19q13)
Periaxin
Charcot-Marie-Tooth neuropathy Type 2A1 - (AD)
14.40
Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. Genomics. 1992 Jan;12(1):155-7. (1733853)
KIF1B (1p36.2)
Kinesin family member 1B
Charcot-Marie-Tooth neuropathy Type 2A2 - (AD)
14.41
Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics. 1993 Aug;17(2):370-5. (15064763)
Zuchner, S.; Mersiyanova, I. V.; Muglia, M.; Bissar-Tadmouri, N.; Rochelle, J.; Dadali, E. L.; Zappia, M.; Nelis, E.; Patitucci, A.; Senderek, J.; Parman, Y.; Evgrafov, O.; and 10 others : Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet. 36: 449-451, 2004. Note: Corrigendum: Nature Genet. 36: 660 only, 2004. (8406488)
MFN2 (1p36.22)
Mitofusin 2
Charcot-Marie-Tooth neuropathy Type 2B - (AD)
14.42
Kwon, J. M.; Elliott, J. L.; Yee, W.-C.; Ivanovich, J.; Scavarda, N. : Charcot-Marie-Tooth type II locus to chromosome 3q. Am. J. Hum. Genet. 57: 853-858, 1995. (7573046)
Pericak-Vance, M. A.; Speer, M. C.; Lennon, F.; West, S. G.; Menold, M. M.; Stajich, J. M.; Wolpert, C. M.; Slotterbeck, B. D.; Saito, M.; Tim, R. W.; Rozear, M. P.; Middleton, L. T.; Tsuji, S.; Vance, J. M. : Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1: 89-93, 1997. (12870133)
Kok, C.; Kennerson, M. L.; Spring, P. J.; Ing, A. J.; Pollard, J. D.; Nicholson, G. A. : A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am. J. Hum. Genet. 73: 632-637, 2003. (10732809)
RAB7A (3q21)
RAB7, member RAS oncogene family
Charcot-Marie-Tooth neuropathy Type 2C - (AD)
14.43
Klein, C. J.; Cunningham, J. M.; Atkinson, E. J.; Schaid, D. J.; Hebbring, S. J.; Anderson, S. A.; Klein, D. M.; Dyck, P. J. B.; Litchy, W. J.; Thibodeau, S. N.; Dyck, P. J. : The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60: 1151-1156, 2003. (12682323)
McEntagart, M. E.; Reid, S. L.; Irrthum, A.; Douglas, J. B.; Eyre, K. E. D.; Donaghy, M. J.; Anderson, N. E.; Rahman, N. : Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann. Neurol. 57: 293-297, 2005. Note: Erratum: Ann. Neurol. 57: 609 only, 2005. (15668982)
Auer-Grumbach, M., Olschewski, A., Papic, L., Kremer, H., McEntagart, M. E., Uhrig, S., Fischer, C., Frohlich, E., Balint, Z., Tang, B., Strohmaier, H., Lochmuller, H., and 13 others Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genet. 42: 160-164, 2010. (20037586)
Deng, H.-X., Klein, C. J., Yan, J., Shi, Y., Wu, Y., Fecto, F., Yau, H.-J., Yang, Y., Zhai, H., Siddique, N., Hedley-Whyte, E. T., Delong, R., Martina, M, Dyck, P. J., Siddique, T. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nature Genet. 42: 165-169, 2010. (20037587)
Landoure, G., Zdebik, A. A., Martinez, T. L., Burnett, B. G., Stanescu, H. C., Inada, H., Shi, Y., Taye, A. A., Kong, L., Munns, C. H., Choo, S. S., Phelps, C. B., and 8 others Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genet. 42: 170-174, 2010. (20037588)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4
Charcot-Marie-Tooth neuropathy Type 2D - (AD)
14.44
Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet. 1996 Sep;5(9):1373-5. (8872480)
GARS (7p15)
Glycyl-tRNA synthetase
Charcot-Marie-Tooth neuropathy Type 2E - (AD)
14.45
Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 07. (10841809)
Georgiou, D.-M.; Zidar, J.; Korosec, M.; Middleton, L. T.; Kyriakides, T.; Christodoulou, K. : A novel NF-L mutation pro22-to-ser is associated with CMT2 in a large Slovenian family. Neurogenetics 4: 93-96, 2002. (12393795)
Brownlees, J.; Ackerley, S.; Grierson, A. J.; Jacobsen, N. J. O.; Shea, K.; Anderton, B. H.; Leigh, P. N.; Shaw, C. E.; Miller, C. C. J. : Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Molec. Genet. 11: 2837-2844, 2002. (12481988)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa
Charcot-Marie-Tooth neuropathy Type 2F - (AD)
14.46
Ismailov, S. M.; Fedotov, V. P.; Dadali, E. L.; Polyakov, A. V.; Van Broeckhoven, C.; Ivanov, V. I.; De Jonghe, P.; Timmerman, V.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Europ. J. Hum. Genet. 9: 646-650, 2001 (15122254 )
Evgrafov, O. V.; Mersiyanova, I.; Irobi, J.; Van Den Bosch, L.; Dierick, I.; Leung, C. L.; Schagina, O.; Verpoorten, N.; Van Impe, K.; Fedotov, V.; Dadali, E.; Auer-Grumbach, M.; and 14 others : Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genet. 36: 602-606, 2004. (11528513)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1
Charcot-Marie-Tooth neuropathy Type 2G - (AD)
14.47
Nelis, E.; Berciano, J.; Verpoorten, N.; Coen, K.; Dierick, I.; Van Gerwen, V.; Combarros, O.; De Jonghe, P.; Timmerman, V. : Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. J. Med. Genet. 41: 193-197, 2004. (14985381)
? - (12q12-q13)
Charcot-Marie-Tooth neuropathy Type 2H - (AD)
14.48
Barhoumi, C.; Amouri, R.; Ben Hamida, C.; Ben Hamida, M.; Machghoul, S.; Gueddiche, M.; Hentati, F. : Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromusc. Disord. 11: 27-34, 2001. (11166163)
? - (8q21.3)
Charcot-Marie-Tooth neuropathy Type 2I (late onset) - (AD)
14.49
Auer-Grumbach, M.; Strasser-Fuchs, S.; Robl, T.; Windpassinger, C.; Wagner, K. : Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004. (14638973)
MPZ (1q22)
Myelin protein zero
Charcot-Marie-Tooth neuropathy Type 2J (with hearing loss and pupillary abnormality) - (AD)
14.50
De Jonghe, P.; Timmerman, V.; Ceuterick, C.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Vercruyssen, A.; Verellen, C.; Van Maldergem, L.; Martin, J.-J.; Van Broeckhoven, C. : The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122: 281-290, 1999. (10071056)
Chapon, F.; Latour, P.; Diraison, P.; Schaeffer, S.; Vandenberghe, A. : Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999. (10329755)
MPZ (1q22)
Myelin protein zero
Charcot-Marie-Tooth neuropathy Type 2K - (AD, AR)
14.51
Baxter, R. V.; Ben Othmane, K.; Rochelle, J. M.; Stajich, J. E.; Hulette, C.; Dew-Knight, S.; Hentati, F.; Ben Hamida, M.; Bel, S.; Stenger, J. E.; Gilbert, J. R.; Pericak-Vance, M. A.; Vance, J. M. : Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30: 21-22, 2002. (11743579)
Birouk, N.; Azzedine, H.; Dubourg, O.; Muriel, M.-P.; Benomar, A.; Hamadouche, T.; Maisonobe, T.; Ouazzani, R.; Brice, A.; Yahyaoui, M.; Chkili, T.; LeGuern, E. : Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch. Neurol. 60: 598-604, 2003. (12707075)
Claramunt, R., Pedrola, L., Sevilla, T., Lopez de Munain, A., Berciano, J., Cuesta, A., Sanchez-Navarro, B., Millan, J. M., Saifi, G. M., Lupski, J. R., Vilchez, J. J., Espinos, C., Palau, F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J. Med. Genet. 42: 358-365, 2005. (15805163)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1
Charcot-Marie-Tooth neuropathy Type 2L - (AD)
14.52
Tang, B.; Luo, W.; Xia, K.; Xiao, J.; Jiang, H.; Shen, L.; Tang, J.; Zhao, G.; Cai, F.; Pan, Q.; Dai, H.; Yang, Q.; Xia, J.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum. Genet. 114: 527-533, 2004. (15021985)
Tang, B.; Zhao, G.; Luo, W.; Xia, K.; Cai, F.; Pan, Q.; Zhang, R.; Zhang, F.; Liu, X.; Chen, B.; Zhang, C.; Shen, L.; Jiang, H.; Long, Z.; Dai, H. : Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum. Genet. 116: 222-224, 2005. (15565283)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8
Charcot-Marie-Tooth neuropathy Type 2N - (AD)
14.53
Latour, P., Thauvin-Robinet, C., Baudelet-Mery, C., Soichot, P., Cusin, V., Faivre, L., Locatelli, M.-C., Mayencon, M., Sarcey, A., Broussolle, E., Camu, W., David, A., Rousson, R. A major determinant for binding and aminoacylation of tRNA-Ala in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth Disease. Am. J. Hum. Genet. 86: 77-82, 2010. (20045102)
AARS (16q22.1)
Alanyl-tRNA synthetase
Charcot-Marie-Tooth neuropathy Type 2O - (AD)
14.54
Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., Ellard, S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 89: 308-312, 2011 (21820100)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1
Charcot-Marie-Tooth neuropathy Type 2P - (AD)
14.55
Guernsey, D. L., Jiang, H., Bedard, K., Evans, S. C., Ferguson, M., Matsuoka, M., Macgillivray, C., Nightingale, M., Perry, S., Rideout, A. L., Orr, A., Ludman, M., Skidmore, D. L., Benstread, T., Samuels, M. E. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLOS Genet. 6: e1001081, 2010. Note: Electronic Article. (22012984)
Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. Eur J Hum Genet. 2012 Jul 11. doi: 10.1038/ejhg.2012.146. (20865121)
Weterman, M. A., Sorrentino, V., Kasher, P. R., Jakobs, M. E., van Engelen, B. G. M., Fluiter, K., de Wissel, M. B., Sizarov, A., Nurnberg, G., Nurnberg, P., Zelcer, N., Schelhaas, H. J., Baas, F. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum. Molec. Genet. 21: 358-370, 2012. (22781092)
LRSAM1 (9q33.3)
leucine rich repeat and sterile alpha motif containing 1
Charcot-Marie-Tooth neuropathy Type 2Q - (AD)
14.56
Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8. (23141294)
DHTKD1 (10p14)
dehydrogenase E1 and transketolase domain containing 1
Charcot-Marie-Tooth neuropathy Type 2R - (AR)
14.57
Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4. (25893792)
Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun;134(6):671-3. doi: 10.1007/s00439-015-1548-3. Epub 2015 Apr 17. (23562820)
TRIM2 (4q31.3)
Tripartite motif containing 2
Charcot-Marie-Tooth neuropathy Type 2T - (AR)
14.58
Higuchi, Y., Hashiguchi, A., Yuan, J., Yoshimura, A., Mitsui, J., Ishiura, H., Tanaka, M., Ishihara, S., Tanabe, H., Nozuma, S., Okamoto, Y., Matsuura, E., and 21 others. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann. Neurol. 79: 659-672, 2016. (26991897)
MME (3q25.2)
membrane metallo-endopeptidase
Charcot-Marie-Tooth neuropathy Type 2V - (AD)
14.59
Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 138: 1477-1483, 2015. (25818867)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase
Charcot-Marie-Tooth neuropathy Type 2W - (AD)
14.60
Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A., Antonellis, A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat. 34: 191-199, 2013. (22930593)
Safka Brozkova, D., Deconinck, T., Griffin, L. B., Ferbert, A., Haberlova, J., Mazanec, R., Lassuthova, P., Roth, C., Pilunthanakul, T., Rautenstrauss, B., Janecke, A. R., Zavadakova, P., and 9 others. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain 138: 2161-2172, 2015. (26072516)
HARS (5q31.3)
histidyl-tRNA synthetase
Charcot-Marie-Tooth neuropathy Type 2X - (61)
14.61
Montecchiani, C., Pedace, L., Lo Giudice, T., Casella, A., Mearini, M., Gaudiello, F., Pedroso, J. L., Terracciano, C., Caltagirone, C., Massa, R., St George-Hyslop, P. H., Barsottini, O. G. P., Kawarai, T., Orlacchio, A. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 139: 73-85, 2016. (26556829)
SPG11 (15q21.1)
Spatacsin
Charcot-Marie-Tooth neuropathy Type 2Z - (AD)
14.62
Albulym, O. M., Kennerson, M. L., Harms, M. B., Drew, A. P., Siddell, A. H., Auer-Grumbach, M., Pestronk, A., Connolly, A., Baloh, R. H., Zuchner, S., Reddel, S. W., Nicholson, G. A. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann. Neurol. 79: 419-427, 2016. (26497905)
Sevilla, T., Lupo, V., Martinez-Rubio, D., Sancho, P., Sivera, R., Chumillas, M. J., Garcia-Romero, M., Pascual-Pascual, S. I., Muelas, N., Dopazo, J., Vilchez, J. J., Palau, F., Espinos, C. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain 139: 62-72, 2016. (26659848)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2
Hereditary motor and sensory neuropathy, Okinawa type - (AD)
14.63
Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol. 1997 Jun;41(6):771-80. (10545038)
Takashima, H.; Nakagawa, M.; Suehara, M.; Saito, M.; Saito, A.; Kanzato, N.; Matsuzaki, T.; Hirata, K.; Terwilliger, J. D.; Osame, M. : Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromusc. Disord. 9: 368-371, 1999. (23553329)
Maeda, K., Kaji, R., Yasuno, K., Jambaldorj, J., Nodera, H., Takashima, H., Nakagawa, M., Makino, S., Tamiya, G. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J. Hum. Genet. 52: 907-914, 2007. (9189038)
Lee, S.-S, Lee, HJ., Park, J-M., et al. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. JAMA Neurol. 2013; 70: 607– 615,. (17906970)
TFG (3q13)
TRK-fused gene
14.64
Gonzalez M, McLaughlin H, Houlden H, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry 2013; 84:1247–1249 (23729695)
MARS (12q13.3)
methionyl-tRNA synthetase
CMT2 related to KIF5A - (AD)
14.65
Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. (25008398)
KIF5A (12q13.13)
Kinesin family member 5A
Early onset axonal neuropathy with sensory ataxia - (AD)
14.66
Hong Y.B., Kang J., Kim J.H., et al. DGAT2 mutation in a family with autosomal-dominant early-onset axonal Charcot-Marie-Tooth disease. Hum Mutat 2016;37:473–80. (26786738)
DGAT2 (1q13.3)
diacylglycerol O-acyltransferase 2
Early-onset axonal Charcot-Marie-Tooth with ataxia - (AR)
14.67
Pedroso J.L., Rocha C.R., Macedo-Souza L.I., et al. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurol Genet 2015;1:e30. (27066567)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase
Charcot-Marie-Tooth neuropathy Autosomal recessive CMT2A - (AR)
14.68
Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet. 1999 Sep;65(3):722-7. (10441578)
Worman HJ, Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10;313(10):2121-33. Epub 2007 Mar 30. Review. (17467691)
LMNA (1q22)
Lamin A/C
Charcot-Marie-Tooth neuropathy Autosomal recessive CMT2B - (AR)
14.69
Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernandez E, Mendez M, Hennies HC, Neundorfer B, Barrantes R, Reis A, Rautenstrauss B. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 07. (11112660)
Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., and 15 others Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 10: 275-287, 2009. (19290556)
MED25 (19q13)
Mediator complex subunit 25
Autosomal recessive CMT2 related to DNAJB2 - (AR)
14.70
Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1. (25274842)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2
Axonal neuropathy with myotonia - (AR)
14.71
Zimon, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloglu, G., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., and 25 others. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genet. 44: 1080-1083, 2012. (22961002)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1
Axonal neuropathy recessive - (AR)
14.72
McLaughlin, H. M., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P. F., Hansen, N. F., Mullikin, J.C., NISC Comparative Sequencing Program, and 13 others. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am. J. Hum. Genet. 87: 560-566, 2010. (20920668)
KARS (16q23.1)
Lysyl-tRNA synthetase
Axonal neuropathy intermediate recessive C - (AR)
14.73
Kim, H. J., Hong, Y. B., Park, J.-M., Choi, Y.-R., Kim, Y. J., Yoon, B. R., Koo, H., Yoo, J. H., Kim, S. B., Park, M., Chung, K. W., Choi, B.-O. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet J. Rare Dis. 8: 104, 2013. Note: Electronic Article. (23777631)
Azzedine, H., Zavadakova, P., Plante-Bordeneuve, V., Vaz Pato, M., Pinto, N., Bartesaghi, L., Zenker, J., Poirot, O., Bernard-Marissal, N., Arnaud Gouttenoire, E., Cartoni, R., Title, A., and 18 others. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum. Molec. Genet. 22: 4224-4232, 2013. (23844677)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
CMT recessive intermediate D - (AR)
14.74
Tamiya, G., Makino, S., Hayashi, M., Abe, A., Numakura, C., Ueki, M., Tanaka, A., Ito, C., Toshimori, K., Ogawa, N., Terashima, T., Maegawa, H., Yanagisawa, D., Tooyama, I., Tada, M., Onodera, O., Hayasaka, K. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 95: 294-300, 2014. (25152455)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1
Autosomal recessive CMT axonal type 2S - (AR)
14.75
Cottenie, E., Kochanski, A., Jordanova, A., Bansagi, B., Zimon, M., Horga, A., Jaunmuktane, Z., Saveri, P., Rasic, V. M., Baets, J., Bartsakoulia, M., Ploski, R., and 28 others. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 95:590-601. (25439726)
Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. (25568292)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2
Hereditary sensory and autonomic neuropathy type I - (AD)
14.76
Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996 May;13(1):101-4. (11242106)
Bejaoui, K.; Wu, C.; Scheffler, M. D.; Haan, G.; Ashby, P.; Wu, L.; de Jong, P.; Brown, R. H., Jr. : SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nature Genet. 27: 261-262, 2001 (11242114)
Dawkins, J. L.; Hulme, D. J.; Brahmbhatt, S. B.; Auer-Grumbach, M.; Nicholson, G. A. : Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nature Genet. 27: 309-312, 2001. (8673084)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1
Hereditary sensory and autonomic neuropathy type IB with cough and gastroesophageal reflux - (AD)
14.77
Kok, C.; Kennerson, M. L.; Spring, P. J.; Ing, A. J.; Pollard, J. D.; Nicholson, G. A. : A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am. J. Hum. Genet. 73: 632-637, 2003. (12870133)
? - (3p24-p22)
Hereditary sensory and autonomic neuropathy type I - (AD)
14.78
Rotthier, A., Auer-Grumbach, M., Janssens, K., Baets, J., Penno, A., Almeida-Souza, L., Van Hoof, K., Jacobs, A., De Vriendt, E., Schlotter-Weigel, B., Loscher, W., Vondracek, P., Seeman, P., De Jonghe, P., Van Dijck, P., Jordanova, A., Hornemann, T., Timmerman, V. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am. J. Hum. Genet. 87: 513-522, 2010. (20920666)
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2
Hereditary sensory neuropathy type ID - (AD)
14.79
Guelly, C., Zhu, P.-P., Leonardis, L., Papic, L., Zidar, J., Schabhuttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., Willems, J., De Jonghe, P., Reilly, M. M., Frohlich, E., Hatz, M., Trajanoski, S., Pieber, T. R., Janecke, A. R., Blackstone, C., Auer-Grumbach, M. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88: 99-105, 2011 (21194679)
ATL1 (14q22.1)
Atlastin GTPase 1
Neuropathy, hereditary sensory, type IF - (AD)
14.80
Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Giesselmann, S., Beil, F. T., Pou-Serradell, A., Vilchez, J. J., and 11 others. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137: 683-692, 2014. (24459106)
ATL3 (11q13.1)
atlastin GTPase 3
Hereditary sensory and autonomic neuropathy type II - (AR)
14.81
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA and Samuels ME. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-73. (15060842)
Shekarabi M, Girard N, Riviere JB, Dion P, Houle M, Toulouse A, Lafreniere RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M and Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 2008;118:2496-505. (18521183)
WNK1 (12p.13)
WNK lysine deficient protein kinase 1
Hereditary sensory neuropathy, type IIB - (AR)
14.82
Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., Nurnberg, G., Nurnberg, P., De Jonghe, P., Gal, A., Kaether, C., Timmerman, V., Hubner, C. A. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nature Genet. 41: 1179-1181, 2009. (19838196)
FAM134B (5p15.1)
family with sequence similarity 134 member B
Hereditary sensory neuropathy, type IIC - (AD)
14.83
Riviere, J.-B., Ramalingam, S., Lavastre, V., Shekarabi, M., Holbert, S., Lafontaine, J., Srour, M., Merner, N., Rochefort, D., Hince, P., Gaudet, R., Mes-Masson, A.-M., and 11 others. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am. J. Hum. Genet. 89: 219-230, 2011. (21820098)
KIF1A (2q37.3)
Kinesin family member 1A
Neuropathy, hereditary sensory and autonomic, type IID - (AR)
14.84
Yuan, J., Matsuura, E., Higuchi, Y., Hashiguchi, A., Nakamura, T., Nozuma, S., Sakiyama, Y., Yoshimura, A., Izumo, S., Takashima, H. Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology 80: 1641-1649, 2013. (23596073)
SCN9A (2q24.3)
sodium voltage-gated channel alpha subunit 9
Hereditary sensory and autonomic neuropathy type III (Familial dysautonomia, Riley-Day syndrome) - (AR)
14.85
Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun;4(2):160-4. (8102296)
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Hereditary sensory and autonomic neuropathy type IV - (AR)
14.86
Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nature Genet. 13: 485-488, 1996. (8696348)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1
Hereditary sensory and autonomic neuropathy type V - (AR)
14.87
Einarsdottir, E.; Carlsson, A.; Minde, J.; Toolanen, G.; Svensson, O.; Solders, G.; Holmgren, G.; Holmberg, D.; Holmberg, M. : A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum. Molec. Genet. 13: 799-805, 2004. (14976160)
NGF (1p13.1)
Nerve growth factor (beta polypeptide)
Hereditary sensory and autonomic neuropathy type VI - (AR)
14.88
Edvardson S., Cinnamon Y., Jalas C., et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 2012;71:569–72. (22522446)
DST (6p12.1)
dystonin
Neuropathy, hereditary sensory and autonomic, type VII - (AD)
14.89
Leipold, E., Liebmann, L., Korenke, G. C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R. O., Stodberg, T., Hennings, J. C., Bergmann, M., Altmuller, J., and 11 others. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nature Genet. 45: 1399-1404, 2013. (24036948)
SCN11A (3p22.2)
sodium voltage-gated channel alpha subunit 11
Hereditary sensory and autonomic neuropathy type VIII - (AR)
14.90
Chen, Y.-C., Auer-Grumbach, M., Matsukawa, S., Zitzelsberger, M., Themistocleous, A. C., Strom, T. M., Samara, C., Moore, A. W., Cho, L. T.-Y., Young, G. T., Weiss, C., Schabhuttl, M., and 47 others. Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genet. 47: 803-808, 2015. Note: Erratum: Nature Genet. 47: 962 only, 2015. (26005867)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
Hereditary motor and sensory neuropathy – Lom (with deafness) - (AD)
14.91
Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 1996 Oct;14(2):214-7. (10831399)
Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30. (8841199)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1
Hereditary sensory neuropathy with dementia and hearing loss - (AD)
14.92
Klein, C. J., Botuyan, M. V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., Simon, M., Lander, C., and 12 others. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genet. 43: 595-600, 2011. (21532572)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1
Peripheral neuropathy and agenesis of the corpus callosum (Charlevoix disease) - (AR)
14.93
Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA. Related Articles, Links The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet. 1996 Jan;58(1):28-34. (8554065)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3
Peripheral neuropathy and deafness, autosomal dominant - (AD)
14.94
Lopez-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet. 2001 Apr 15;10(9):947-52. (11309368)
GJB3 (1p34.3)
Gap junction protein, beta 3, 31kDa (=connexin 31)
Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) - (AD)
14.95
Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology. 1996 Apr;46(4):1128-32. (8780104)
SEPT9 (17q25)
Septin 9
Giant axonal neuropathy - (AR)
14.96
Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M'Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics. 1997 Sep;1(2):129-33. (10732815)
Bomont, P.; Cavalier, L.; Blondeau, F.; Ben Hamida, C.; Belal, S.; Tazir, M.; Demir, E.; Topaloglu, H.; Korinthenberg, R.; Tuysuz, B.; Landrieu, P.; Hentati, F.; Koenig, M. : The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nature Genet. 26: 370-374, 2000. (11062483)
GAN (16q24.1)
Gigaxonin
Giant axonal neuropathy 2 - (AD)
14.97
Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology 82: 873-878, 2014. (24500646)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8
Congenital cataracts, facial dysmorphism and neuropathy - (AR)
14.98
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21. (14517542)
CTDP1 (18q23)
CTD phosphatase subunit 1
Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysgenesis - (AR)
14.99
Gonzaga-Jauregui C, Lotze T, Jamal L, et al. Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly. JAMA Neurol 2013 (24126608)
VRK1 (14q32)
Vaccinia related kinase 1
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (AR)
14.100
Bouhouche A., Benomar N., Bouslam N. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p12.31-14.1. Eur J Hum Genet 2006a;14:249– 52. (16333315)
Bouhouche A., Benomar N., Bouslam N. Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet 2006b;43:441–3. (16399879)
CCT5 (5p15.2)
chaperonin containing TCP1 subunit 5