Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. Through positional cloning, we identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose beta1, 2-N-acetylglucosaminy ltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of alpha-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. In this review Fukuyama-type congenital muscular dystrophy (FCMD), other CMDs with brain malformations, and their relation with alpha-dystroglycan are discussed.
Toda
Tatsushi
T
Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan. toda@clgene.med.osaka-u.ac.jp
Kobayashi
Kazuhiro
K
Takeda
Satoshi
S
Sasaki
Junko
J
Kurahashi
Hiroki
H
Kano
Hiroki
H
Tachikawa
Masaji
M
Wang
Fan
F
Nagai
Yoshitaka
Y
Taniguchi
Kiyomi
K
Taniguchi
Mariko
M
Sunada
Yoshihide
Y
Terashima
Toshio
T
Endo
Tamao
T
Matsumura
Kiichiro
K
D000818:Animals; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins / Q000378:metabolism*; D004195:Disease Models, Animal; D049030:Dystroglycans; D005260:Female; D006031:Glycosylation; D006801:Humans; D008562:Membrane Glycoproteins / Q000378:metabolism*; D008565:Membrane Proteins; D051379:Mice; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D011506:Proteins / Q000378:metabolism; D014166:Transferases
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; C113587:FKTN protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011506:Proteins; D049030:Dystroglycans; C491879:Fcmd protein, mouse; D014166:Transferases