A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Fowzan S Alkuraya

Neurogenetics 2013 Nov

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Walker-Warburg syndrome (WWS) is a genetically heterogeneous form of congenital muscular dystrophy with significant brain and ocular involvement. In a multiplex consanguineous family with severe WWS phenotype, autozygome-guided sequencing of previously reported WWS genes was negative. Exome sequencing followed by autozygome filtration revealed a homozygous two-base pair insertion in B3GNT1 (NM_006876.2:c.821_822insTT), leading to premature truncation of the protein (p.Glu274Aspfs*94). Recently, two missense mutations in this gene have been reported as probably causal in a family with WWS. This report describes the first truncating mutation in B3GNT1 and confirms that this gene, which plays a role in αDG glycosylation, is a bona fide disease gene in WWS.

Citation

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Fowzan S Alkuraya. A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. Neurogenetics. 2013 Nov;14(3-4):243-5