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Gene table: Congenital muscular dystrophies
doi: 10.1053/ejpn.2001.0545 available online at http://www.idealibrary.com on European Journal of Paediatric Neurology 2002; 6: 79
GENE TABLE
Gene table: Congenital muscular dystrophies F MUNTONI Department of Paediatric Neurology, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK
Gene table: Congenital Muscular Dystrophies (CMD) Name
Abbreviation
Gene location
Gene symbol
Protein
Refs
Merosin deficient CMD
MDC1A
6q2
LAMA2
laminin a2
1
Fukuyama CMD
FCMD
9q3
FKT1
fukutin
2
12q
ITGA7
integrin a7
3
Integrin a7 deficiency Muscle±Eye±Brain disease
MEB
1p3
OMGnT
b1,2-N-Acetylglucosaminyl-transferase
4
Rigid spine syndrome
RSMD1
1p3
SEPN1
SEPN1
5
CMD + secondary merosin deficiency 1
MCD1B
1q4
?
?
6
CMD + secondary merosin deficiency 2
MDC1C
19
FKRP
Fukutin related protein
7
Ullrich syndrome (1, 2, 3)
UCMD1
21q2
COL 6A1
collagen 6
8
UCMD2
21q2
COL 6A2
collagen 6
8
UCMD3
2q3
COL 6A3
collagen 6
8
References 1
2 3 4
Helbling-Leclerc A, Zhang X, TopalogÏlu H et al. Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosindeficient congenital muscular dystrophy. Nature Genet 1995; 11: 216±218. Kobayashi K, Nakahori Y, Miyake M et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388±392. Hayashi YK, Chou F-L, Engvall E et al. Mutations in the integrin alpha-7 gene cause congenital myopathy. Nature Genet 1998; 19: 94±97. Kobayashi K, Yoshida A, Manya H et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a novel glycosyltransferase. 51st ASHG Conference, San Diego, California, 12±16 October 2001, Abstract 267.
5
6
7
8
Moghadaszadeh B, Petit N, Jaillard C et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nature Genet 2001; 29: 17±18. Brockington M, Sewry CA, Herrmann R et al. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet 2000; 66: 428±435. Brockington M, Blake DJ, Prandini P et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin a2 deficiency and abnormal glycosylation of a-dystroglycan. Am J Hum Gen 2002; (in press). Camacho Vanegas O, Bertini E, Zhang RZ et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001; 98: 7516±7521.
Received 17.09.2001. Accepted 25.09.2001. Correspondence: Professor F Muntoni, MD, FRCPCH, Department of Paediatrics & Neonatal Medicine, Imperial College Faculty of Medicine, Hammersmith Hospital Campus, Du Cane Road, London W12 0NN, UK. e-mail: [email protected]
1090±3798/02/06/0079+1 $35.00
& 2002 European Paediatric Neurology Society
GENE TABLE
Gene table: Congenital muscular dystrophies F MUNTONI Department of Paediatric Neurology, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK
Gene table: Congenital Muscular Dystrophies (CMD) Name
Abbreviation
Gene location
Gene symbol
Protein
Refs
Merosin deficient CMD
MDC1A
6q2
LAMA2
laminin a2
1
Fukuyama CMD
FCMD
9q3
FKT1
fukutin
2
12q
ITGA7
integrin a7
3
Integrin a7 deficiency Muscle±Eye±Brain disease
MEB
1p3
OMGnT
b1,2-N-Acetylglucosaminyl-transferase
4
Rigid spine syndrome
RSMD1
1p3
SEPN1
SEPN1
5
CMD + secondary merosin deficiency 1
MCD1B
1q4
?
?
6
CMD + secondary merosin deficiency 2
MDC1C
19
FKRP
Fukutin related protein
7
Ullrich syndrome (1, 2, 3)
UCMD1
21q2
COL 6A1
collagen 6
8
UCMD2
21q2
COL 6A2
collagen 6
8
UCMD3
2q3
COL 6A3
collagen 6
8
References 1
2 3 4
Helbling-Leclerc A, Zhang X, TopalogÏlu H et al. Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosindeficient congenital muscular dystrophy. Nature Genet 1995; 11: 216±218. Kobayashi K, Nakahori Y, Miyake M et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998; 394: 388±392. Hayashi YK, Chou F-L, Engvall E et al. Mutations in the integrin alpha-7 gene cause congenital myopathy. Nature Genet 1998; 19: 94±97. Kobayashi K, Yoshida A, Manya H et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a novel glycosyltransferase. 51st ASHG Conference, San Diego, California, 12±16 October 2001, Abstract 267.
5
6
7
8
Moghadaszadeh B, Petit N, Jaillard C et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nature Genet 2001; 29: 17±18. Brockington M, Sewry CA, Herrmann R et al. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet 2000; 66: 428±435. Brockington M, Blake DJ, Prandini P et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin a2 deficiency and abnormal glycosylation of a-dystroglycan. Am J Hum Gen 2002; (in press). Camacho Vanegas O, Bertini E, Zhang RZ et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001; 98: 7516±7521.
Received 17.09.2001. Accepted 25.09.2001. Correspondence: Professor F Muntoni, MD, FRCPCH, Department of Paediatrics & Neonatal Medicine, Imperial College Faculty of Medicine, Hammersmith Hospital Campus, Du Cane Road, London W12 0NN, UK. e-mail: [email protected]
1090±3798/02/06/0079+1 $35.00
& 2002 European Paediatric Neurology Society