Fukutin and alpha-dystroglycanopathies.
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. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose beta1, 2-N-acetylglucosaminyltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of alpha-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. All are characterized by hypoglycosylated alpha-dystroglycan. Fukutin's function and the relation with other alpha-dystroglycanopathies are discussed.
Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, Japan. toda@clgene.med.osaka-u.ac.jp
T
T
Toda
T
T
Chiyonobu
H
H
Xiong
M
M
Tachikawa
K
K
Kobayashi
H
H
Manya
S
S
Takeda
M
M
Taniguchi
H
H
Kurahashi
T
T
Endo
D000818:Animals; D046528:Chimerism; D049030:Dystroglycans; D006031:Glycosylation; D006801:Humans; D008565:Membrane Proteins; D009136:Muscular Dystrophies / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D011506:Proteins / Q000235:genetics*
C483081:DAG1 protein, human; C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins; D049030:Dystroglycans; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase