title: A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.
abstract: 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.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.forename: Eissa
authors.initials: E
authors.lastname: Faqeih
authors.forename: Shinu
authors.initials: S
authors.lastname: Ansari
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D058494:Walker-Warburg Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D017351:N-Acetylglucosaminyltransferases; C542575:B4GAT1 protein, human