POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
Walker-Warburg syndrome (WWS) is a congenital muscular dystrophy associated with neuronal migration disorder and structural eye abnormalities. The mutations in the O-mannosyltransferase 1 gene (POMT1) were identified recently in 20% of patients with WWS. The authors report on a patient with WWS and a novel POMT1 mutation. Their patient expressed alpha-dystroglycan (alpha-DG) core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with the loss of laminin-binding activity.
Kim
D S
DS
Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan.
Hayashi
Y K
YK
Matsumoto
H
H
Ogawa
M
M
Noguchi
S
S
Murakami
N
N
Sakuta
R
R
Mochizuki
M
M
Michele
D E
DE
Campbell
K P
KP
Nonaka
I
I
Nishino
I
I
D000015:Abnormalities, Multiple / Q000235:genetics; D000200:Action Potentials; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D017124:Conserved Sequence; D003402:Creatine Kinase / Q000097:blood; D003598:Cytoskeletal Proteins / Q000172:deficiency / Q000378:metabolism; D004252:DNA Mutational Analysis; D049030:Dystroglycans; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000172:deficiency / Q000378:metabolism; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics*; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D049030:Dystroglycans; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase; D003402:Creatine Kinase