title: POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
abstract: 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.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan.
authors.forename: D S
authors.initials: DS
authors.lastname: Kim
authors.forename: Y K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: H
authors.initials: H
authors.lastname: Matsumoto
authors.forename: M
authors.initials: M
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Noguchi
authors.forename: N
authors.initials: N
authors.lastname: Murakami
authors.forename: R
authors.initials: R
authors.lastname: Sakuta
authors.forename: M
authors.initials: M
authors.lastname: Mochizuki
authors.forename: D E
authors.initials: DE
authors.lastname: Michele
authors.forename: K P
authors.initials: KP
authors.lastname: Campbell
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: I
authors.initials: I
authors.lastname: Nishino
mesh_terms: 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
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D049030:Dystroglycans; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase; D003402:Creatine Kinase