2. CONGENITAL MUSCULAR DYSTROPHIES (Return to Disease group)
Disease phenotype
Item in this table
References
Gene symbol (chromosome)
protein
Congenital muscular dystrophy with merosin deficient - (AR)
2.1
Hillaire D, Leclerc A, Faure S, Topaloglu H, Chiannilkulchai N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet. 1994 Sep;3(9):1657-61. (7833925)
Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994 Apr;317(4):351-7. (8000914)
Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995 Oct;11(2):216-8. (7550355)
Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggvason K, Campbell KP. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Hum Mol Genet. 1997 May;6(5):747-52. (9158149)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin
Bethlem myopathy - (AD)
2.2
Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet. 1996 Sep;14(1):113-5. (8782832)
COL6A1 (21q22.3)
Alpha 1 type VI collagen
Bethlem myopathy - (AD)
2.3
Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Neurology. 2009 Dec 1;73(22):1883-91. Autosomal recessive Bethlem myopathy. (19949035)
COL6A2 (21q22.3)
Alpha 2 type VI collagen
Bethlem myopathy - (AR)
2.4
Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jobsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet. 1996 Jul;5(7):1043-6. (8817344)
Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet. 1998 May;7(5):807-12. (9536084)
COL6A3 (2q37)
Alpha 3 type VI collagen
Ullrich syndrome (recessive) - (AR)
2.5
Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G. Related Articles, Links Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21. Epub 2001 May 29. (11381124)
Higuchi, I.; Shiraishi, T.; Hashiguchi, T,; Suehara, M.; Niiyama, T.; Nakagawa, M.; Arimura, K.; Maruyama, I.; Osame, M. : Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann. Neurol. 50: 261-265, 2001. (11506412)
COL6A2 (21q22.3)
Alpha 2 type VI collagen
Ullrich syndrome - (AR)
2.6
Pan, T.-C.; Zhang, R.-Z.; Sudano, D. G.; Marie, S. K.; Bonnemann, C. G.; Chu, M.-L.: New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am. J. Hum. Genet. 73: 355-369, 2003. (12840783)
Giusti, B.; Lucarini, L.; Pietroni, V.; Lucioli, S.; Bandinelli, B.; Sabatelli, P.; Squarzoni, S.; Petrini, S.; Gartioux, C.; Talim, B.; Roelens, F.; Merlini, L.; Topaloglu, H.; Bertini, E.; Guicheney, P.; Pepe, G.: Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann. Neurol. 58: 400-410, 2005. (16130093)
COL6A1 (21q22.3)
Alpha 1 type VI collagen
Ullrich syndrome - (AD)
2.7
Vanegas, O. C., Bertini, E., Zhang, R.-Z., Petrini, S., Minosse, C., Sabatelli, P., Giusti, B., Chu, M.-L., Pepe, G. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc. Nat. Acad. Sci. 98: 7516-7521, 2001. (11381124)
COL6A2 (21q22.3)
Alpha 2 type VI collagen
Ullrich syndrome - (AR)
2.8
Demir, E.; Sabatelli, P.; Allamand, V.; Ferreiro, A.; Moghadaszadeh, B.; Makrelouf, M.; Topaloglu, H.; Echenne, B.; Merlini, E.; Guicheney, P. : Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am. J. Hum. Genet. 70: 1446-1458, 2002. (11992252)
COL6A3 (2q37)
Alpha 3 type VI collagen
Ullrich congenital muscular dystrophy 2 - (AR)
2.9
Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., Meier, M., Stetefeld, J., Hicks, D., Straub, V., Voermans, N. C., Birk, D. E., Barton, E. R., Koch, M., Bonnemann, C. G. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum. Molec. Genet. 23: 2339-2352, 2014. (24334604)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain
Bethlem myopathy 2 - (AD)
2.10
Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., Meier, M., Stetefeld, J., Hicks, D., Straub, V., Voermans, N. C., Birk, D. E., Barton, E. R., Koch, M., Bonnemann, C. G. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum. Molec. Genet. 23: 2339-2352, 2014. (24334604)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain
COL12A1-related congenital muscular dystrophy - (AD)
2.11
Punetha J, Kesari A, Hoffman EP, Gos M, Kami?ska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, J?drzejowska M. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve. 2016 Jun 27. doi: 10.1002/mus.25232. (27348394)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain
Myosclerosis - (AR)
2.12
Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14;71(16):1245-53. (18852439)
COL6A2 (21q22.3)
Alpha 2 type VI collagen
Rigid spine syndrome - (AR)
2.13
Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tome FM, Guicheney P. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet. 1998 Jun;62(6):1439-45. (11528383)
Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001 Sep;29(1):17-8. (12192640)
Ferreiro, A.; Quijano-Roy, S.; Pichereau, C.; Moghadaszadeh, B.; Goemans, N.; Bonnemann, C.; Jungbluth, H.; Straub, V.; Villanova, M.; Leroy, J.-P.; Romero, N. B.; Martin, J.-J.; Muntoni, F.; Voit, T.; Estournet, B.; Richard, P.; Fardeau, M.; Guicheney, P. : Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am. J. Hum. Genet. 71: 739-749, 2002 (9585610)
SEPN1 (1p36.13)
Selenoprotein N1
Rigid spine syndrome - (AR)
2.14
Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord. 2008 Dec;18(12):959-61. Epub 2008 Oct 25. (18952429)
FHL1 (Xq26.3)
Four and a half LIM domain 1
Congenital muscular dystrophy with integrin defect - (AR)
2.15
Hayashi, Y. K.; Chou, F.-L.; Engvall, E.; Ogawa, M.; Matsuda, C.; Hirabayashi, S.; Yokochi, K.; Ziober, B. L.; Kramer, R. H.; Kaufman, S. J.; Ozawa, E.; Goto, Y.; Nonaka, I.; Tsukahara, T.; Wang, J.; Hoffman, E. P.; Arahata, K. : Mutations in the integrin alpha-7 gene cause congenital myopathy. Nature Genet. 19: 94-97, 1998. (9590299)
ITGA7 (12q13)
Integrin alpha 7 precursor
Congenital muscular dystrophy with dynamin 2 defect - (AD)
2.16
Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov;37(11):1207-9. Epub 2005 Oct 16. (16227997)
Bitoun, M., Bevilacqua, J. A., Eymard, B., Prudhon, B., Fardeau, M., Guicheney, P., Romero, N. B. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. Neurology 72: 93-95, 2009. (19122038)
DNM2 (19p13.2)
Dynamin 2
Congenital musuclar dystrophy with telethonin defect - (AR)
2.17
Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord. 2011 Jun;21(6):433-8. Epub 2011 May 6. (21530252)
TCAP (17q12)
Telethonin
Congenital muscular dystrophy due to LMNA defect (L-CMD) - (AD)
2.18
Quijano-Roy S, Mbieleu B, Bonnemann CG et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann. Neurol 2008;64:177–86. (18551513)
LMNA (1q22)
Lamin A/C
Fukuyama congenital muscular dystrophy - (AR)
2.19
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993 Nov;5(3):283-6. Erratum in: Nat Genet 1994 May;7(1):113. (8275093)
Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998 Jul 23;394(6691):388-92 (9690476)
FKTN (9q31-q33)
Fukutin
Walker-Warburg syndrome - (AR)
2.20
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. (19299310)
FKTN (9q31-q33)
Fukutin
Walker-Warburg syndrome - (AR)
2.21
Beltran-Valero de Bernabe, D.; Currier, S.; Steinbrecher, A.; Celli, J.; van Beusekom, E.; van der Zwaag, B.; Kayserili, H.; Merlini, L.; Chitayat, D.; Dobyns, W. B.; Cormand, B.; Lehesjoki, A.-E.; Cruces, J.; Voit, T.; Walsh, C. A.; van Bokhoven, H.; Brunner, H. G. : Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71: 1033-1043, 2002. (12369018)
van Reeuwijk, J.; Maugenre, S.; van den Elzen, C.; Verrips, A.; Bertini, E.; Muntoni, F.; Merlini, L.; Scheffer, H.; Brunner, H. G.; Guicheney, P.; van Bokhoven, H.: The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum. Mutat. 27: 453-459, 2006. (16575835)
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. (19299310)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1
Walker-Warburg syndrome - (AR)
2.22
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13. (15894594)
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. (19299310)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2
Walker-Warburg syndrome - (AR)
2.23
Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May;41(5):e61. (15121789)
FKRP (19q13.32)
Fukutin-related protein
Walker-Warburg syndrome - (AR)
2.24
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34. (12588800)
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. (19299310)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Walker-Warburg syndrome - (AR)
2.25
Roscioli, T., Kamsteeg, E.-J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L. E. L. M., Schraders, M., Altunoglu, U., and 23 others. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genet. 44: 581-585, 2012. (22522420)
Willer, T., Lee, H., Lommel, M., Yoshida-Moriguchi, T., Valero de Bernabe, D. B., Venzke, D., Cirak, S., Schachter, H., Vajsar, J., Voit, T., Muntoni, F., Loder, A. S., Dobyns, W. B., Winder, T. L., Strahl, S., Mathews, K. D., Nelson, S. F., Moore, S. A., Campbell, K. P. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nature Genet. 44: 575-580, 2012. (22522421)
ISPD (7p21.2)
Isoprenoid synthase domain containing
Walker-Warburg syndrome - (AR)
2.26
Manzini, M. C., Tambunan, D. E., Hill, R. S., Yu, T. W., Maynard, T. M., Heinzen, E. L., Shianna, K. V., Stevens, C. R., Partlow, J. N., Barry, B. J., Rodriguez, J., Gupta, V. A., and 10 others. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am. J. Hum. Genet. 91: 541-547, 2012. (22958903)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2
Walker-Warburg syndrome (WWS) - (AR)
2.27
Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.-J., van den Elzen, C., van Beusekom, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G. J., Stemple, D. L., Lin, Y.-Y., Lefeber, D. J., van Bokhoven, H. Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum. Molec. Genet. 22: 1746-1754, 2013. (23359570)
B3GNT1 (11q13.2)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1
Muscle-eye-brain disease - (AR)
2.28
Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1: 717-724, 2001. (11709191)
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34. (12588800)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Muscle-eye-brain disease - (AR)
2.29
Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May;41(5):e61. (15121789)
FKRP (19q13.32)
Fukutin-related protein
Muscle-eye-brain disease - (AR)
2.30
Mercuri, E., A. D'Amico, et al. (2006). "POMT2 mutation in a patient with 'MEB-like' phenotype." Neuromuscul Disord 16(7): 446-8. PMID: 16701995 (16701995)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2
Muscle-eye-brain disease - (AR)
2.31
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. (23768512)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (AR)
2.32
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 08. (11592034)
Topaloglu, H., Brockington, M., Yuva, Y., Talim, B., Haliloglu, G., Blake, D., Torelli, S., Brown, S. C., Muntoni, F. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60: 988-992, 2003. Note: Erratum: Neurology 60: 1875 only, 2003. (19299310)
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. (12654965)
FKRP (19q13.32)
Fukutin-related protein
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (AR)
2.33
Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9 (12966029)
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. (19299310)
LARGE (22q12.3-q13.1)
Like-glycosyltransferase
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (AR)
2.34
Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Molec. Genet. Metab. 110: 345-351, 2013. (23856421)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with severe epilepsy - (AR)
2.35
Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann. Neurol. 72: 550-558, 2012. (23109149)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (XR)
2.36
Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum. Molec. Genet. 21: 4151-4161, 2012. (22492991)
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase
Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB like - (AR)
2.37
Stevens, E., Carss, K. J., Cirak, S., Foley, A. R., Torelli, S., Willer, T., Tambunan, D. E., Yau, S., Brodd, L., Sewry, C. A., Feng, L., Haliloglu, G., and 14 others. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 92: 354-365, 2013. (23453667)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2
Congenital muscular dystrophy with hypoglycosylation of dystroglycan and mental retardation - (AR)
2.38
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. (23768512)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - (AR)
2.39
Vuillaumier-Barrot, S., Bouchet-Seraphin, C., Chelbi, M., Devisme, L., Quentin, S., Gazal, S., Laquerriere, A., Fallet-Bianco, C., Loget, P., Odent, S., Carles, D., Bazin, A., and 14 others. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am. J. Hum. Genet. 91: 1135-1143, 2012. (23217329)
TMEM5 (12q14.2)
Transmembrane protein 5
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - (AR)
2.40
Jae, L. T., Raaben, M., Riemersma, M., van Beusekom, E., Blomen, V. A., Velds, A., Kerkhoven, R. M., Carette, J. E., Topaloglu, H., Meinecke, P., Wessels, M. W., Lefeber, D. J., Whelan, S. P., van Bokhoven, H., Brummelkamp, T. R. Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science 340: 479-483, 2013. (23519211)
POMK (8p11.21)
Protein-O-mannose kinase
Congenital muscle dystrophy with joint hyperlaxity - (AR)
2.41
Tetreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain. 2006 Aug;129(Pt 8):2077-84. Epub 2006 Jun 7. (16760198)
? - (3p23-21)
Congenital muscle dystrophy with mitochondrial structural abnormalities (megaconial type) - (AR)
2.42
Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011 Jun 10;88(6):845-51. (21665002)
CHKB (22q13)
Choline kinase beta
Congenital muscular dystrophy - (AR)
2.43
Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet. 2000 Feb;66(2):428-35. (10677302)
? - (1q42)
Congenital muscular dystrophy with rigid spine related to ACTA1 - (AR)
2.44
O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2014 Sep 3. doi: 10.1038/ejhg.2014.169. (25182138)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - (AR)
2.45
Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skelet Muscle. 2015 Aug 28;5:29. doi: 10.1186/s13395-015-0056-4. eCollection 2015. (26322222)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11
GOLGA2-related congenital muscle dystrophy with brain involvement - (AR)
2.46
Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, Alkuraya FS. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet. 2016 Feb;135(2):245-51. doi: 10.1007/s00439-015-1632-8. (26742501)
GOLGA2 (9q34.113)
golgin A2
Muscular dystrophy, congenital Davignon-Chauveau type - (AR)
2.47
Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M. C., Guichet, A., Allamand, V., Vadrot, N., Faure, J., Odent, S., Lazaro, L., Leroy, J. P., Marcorelles, P., Dubourg, O., Ferreiro, A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum. Molec. Genet. 25: 1559-1573, 2016. (27008887)
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4