GeneTable

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 1 - (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 1 - (AD)

2.3

COL6A2 (21q22.3)

Alpha 2 type VI collagen

Bethlem myopathy 1 - (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)

COL6A2 (21q22.3)

Alpha 2 type VI collagen

COL6A3 (2q37)

Alpha 3 type VI collagen

Bethlem myopathy 1 - (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 congenital muscular dystrophy 1 - (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 congenital muscular dystrophy 1 - (AD)

2.7

COL6A2 (21q22.3)

Alpha 2 type VI collagen

Ullrich congenital muscular dystrophy 1 - (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

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, congenital - (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 1 - (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)

SELENON (1p36.13)

Selenoprotein N1

Congenital muscular dystrophy due to ITGA7 deficiency - (AR)

2.14

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 related to DNM2 - (AD)

2.15

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 related to TCAP - (AR)

2.16

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 related to LMNA - (AD)

2.17

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

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A1 - (AR)

2.18

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

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A2 - (AR)

2.19

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)

POMT2 (14q24.3)

Protein-O-mannosyltransferase 2

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A3 - (AR)

2.20

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

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A4 - (AR)

2.21

FKTN (9q31-q33)

Fukutin

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A5 - (AR)

2.22

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

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A6 - (AR)

2.23

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)

LARGE1 (22q12.3)

LARGE xylosyl- and glucuronyltransferase 1

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A7 - (AR)

2.24

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)

CRPPA (7p21.2-p21.1)

Isoprenoid synthase domain containing protein

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A8 - (AR)

2.25

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

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A9 - (AR)

2.26

Geis T., Marquard K., Rödl T., Reihle C., Schirmer S., von Kalle T., et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics 14: 205-213, 2013. (24052401)

DAG1 (3p21)

Dystroglycan1

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A10 - (AR)

2.27

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)

RXYLT1 (12q14.2)

Ribitol xylosyltransferase 1 (transmembrane protein 5)

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A11 - (AR)

2.28

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

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A12 - (AR)

2.29

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

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A13 - (AR)

2.30

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)

B4GAT1 (11q13.2)

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1

Muscular dystrophy-dystroglycanopathy (Congenital with brain and eyes anomlies), type A14 - (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

Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - (AR)

2.32

van Tol W, Ashikov A, Korsch E, et al. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. JIMD Rep. 2019;50(1):31-39. Published 2019 Sep 30. doi:10.1002/jmd2.12060 (31741824)

POMT1 (9q34.1)

Protein-O-mannosyltransferase 1

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B2 - (AR)

2.33

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

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B3 - (AR)

2.34

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)

POMGNT1 (1p34.1)

O-linked mannose beta1,2-N-acetylglucosaminyltransferase

Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B4 - (AR)

2.35

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

Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B5 - (AR)

2.36

FKRP (19q13.32)

Fukutin-related protein

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B6 - (AR)

2.37

LARGE1 (22q12.3)

LARGE xylosyl- and glucuronyltransferase 1

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B14 - (AR)

2.38

GMPPB (3p21.31)

GDP-mannose pyrophosphorylase B

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 - (AR)

2.39

Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J. Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter) Clin. Genet. 96: 590-591, 2019. [PubMed: 31469168, related citations] (31469168)

DPM3 (1q22)

Dolichyl-phosphate mannosyltransferase polypeptide 3

Muscle-eye-brain disease (MEB) - (AD)

2.40

Villar-Quiles RN, Gomez-Garcia de la Banda M, Barois A, et al. Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy. J Neuromuscul Dis. 2020;7(1):69-76. (31796684)

? - (11q13.2q14.1)

Congenital disorder of glycosylation, type Ie - (AR)

2.41

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 disorder of glycosylation, type 1f - (AR)

2.42

Walinka van Tol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A Willemsen, Christian Thiel, Dirk J Lefeber. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. JIMD Rep. 2019 Sep 30;50(1):31-39. doi: 10.1002/jmd2.12060. eCollection 2019 Nov. (31741824)

MPDU1 (17p13.1)

Mannose-P-dolichol utilization defect 1

Congenital disorder of glycosylation, type 1u - (AR)

2.43

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 muscle dystrophy with mitochondrial structural abnormalities (megaconial type) - (AR)

2.44

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)

2.45

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)

Developmental delay with hypotonia, myopathy and brain abnormalities - (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

Muscular dystrophy, congenital, with cataracts and intellectual disability - (AR)

2.48

Osborn, D. P. S., Pond, H. L., Mazaheri, N., Dejardin, J., Munn, C. J., Mushref, K., Cauley, E. S., Moroni, I., Pasanisi, M. B., Sellars, E. A., Hill, R. S., Partlow, J. N., and 12 others. Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjogren syndrome and dystroglycanopathy. Am. J. Hum. Genet. 100: 537-545, 2017. (28190456)

Wiessner, M., Roos, A., Munn, C. J., Viswanathan, R., Whyte, T., Cox, D., Schoser, B., Sewry, C., Roper, H., Phadke, R., Bettolo, C. M., Barresi, R. and 26 others. Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment. Am. J. Hum. Genet. 100: 523-536, 2017. (28190459)

INPP5K (17p13.3)

Inositol Polyphosphate-5-Phosphatase K

Congenital muscular dystrophy related to MSTO1 - (AR)

2.49

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. (28544275)

Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27. (31130378)

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol. 2019 Aug 29. doi: 10.1007/s00401-019-02059-z. (31463572)

MSTO1 (1q22)

Misato homolog 1 (Drosophila)

2.50

Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW. Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. J Neuropathol Exp Neurol. 2019 Mar 1;78(3):283-287. doi: 10.1093/jnen/nlz004. PubMed PMID: 30715496; PubMed Central PMCID: PMC6380315. (30715496)

RYR1 (19q13.1)

Ryanodine receptor 1 (skeletal)

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations - (AR)

2.51

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)

Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of ?-dystroglycan and muscular dystrophy. Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. (29855340)

TRAPPC11 (4q35.1)

Trafficking protein particle complex 11

Congenital muscular dystrophy, with ou without seizures - (AR)

2.52

GOSR2 (17q21.32)

Golgi SNAP receptor complex member 2

Congenital muscular dystrophy with epilepsy - (AR)

2.53

Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021 Dec 7;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. PMID: 34779586; PMCID: PMC8649873. (34779586)

BET1 (7q21.3 )

BET1 golgi vesicular membrane-trafficking protein

Congenital muscular dystrophy related to TRAPPC2L - (AR)

2.54

Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F. TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype. J Med Genet. 2023 Oct;60(10):1021-1025. doi: 10.1136/jmg-2022-108677. Epub 2023 Feb 27. PMID: 36849228. (36849228)

TRAPPC2L (16q24.3)

Trafficking protein particle complex 2-like

GeneTable of Neuromuscular Disorders