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June 2013

De Novo Splice Mutation in the Versican Gene in a Family With Wagner Syndrome

JAMA Ophthalmol. 2013;131(6):805-807. doi:10.1001/jamaophthalmol.2013.681

Wagner syndrome (WS; OMIM143200) is a rare inherited vitreoretinopathy caused by mutations in the canonical consensus sites of exon 7 or 8 of the versican gene (VCAN), leading to an aberrant imbalance of its 4 encoded isoforms.1-3 Although this ocular disorder is clinically very heterogeneous, it is characterized by an optically empty vitreous with no systemic features.1 Only a limited number of families with WS have had the WS confirmed at the molecular level, but all WS-associated VCAN mutations have been shown, until now, to be transmitted through several generations as an autosomal dominant trait with complete penetrance.4