Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3055145 | European Journal of Paediatric Neurology | 2007 | 4 Pages |
Abstract
Walker––Warburg syndrome (WWS), the most severe α-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD.
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Authors
Uluç Yis, Gökhan Uyanik, Semra Kurul, Eray Dirik, Erdener Özer, Claudia Gross, Ute Hehr,