POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
case_report · Level V
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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.
Medical subject headings
- Brain
- Eye Abnormalities
- Mannosyltransferases
- Muscular Dystrophies
- Nervous System Malformations