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POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in -DG

From the Department of Neuromuscular Research (Drs. Kim, Hayashi, Matsumoto, Noguchi, and Nishino, M. Ogawa), National Institute of Neuroscience, National Center for Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Neurology (Dr. Kim), Pusan National University Hospital, Korea; Department of Pediatrics (Drs. Murakami and Sakuta), Dokkyo Medical School, Saitama, Japan; Department of Neurology (Dr. Mochizuki), Saitama Children’s Medical Center, Japan; Howard Hughes Medical Institute, Department of Physiology and Biophysics (Drs. Michele and Campbell), University of Iowa College of Medicine, Iowa City, IA; and National Center Hospital for Mental, Nervous, and Muscular Disorders (Dr. Nonaka), NCNP, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Yukiko K. Hayashi, Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan; e-mail: hayasi_y{at}ncnp.go.jp

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 -dystroglycan (-DG) core protein, but fully glycosylated -DG antibody epitopes were absent, associated with the loss of laminin-binding activity.

Received May 27, 2003. Accepted in final form November 10, 2003.

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