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Article

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

European journal of human genetics : EJHG - 1 Mar 2013

Kloeckener-Gruissem Barbara, Neidhardt John, Magyar István, Plauchu Henri, Zech Jean-Christophe, Morlé Laurette, Palmer-Smith Sheila M, Macdonald Moira J, Nas Véronique, Fry Andrew E, Berger Wolfgang

Abstract excerpt

Wagner syndrome (WS) is an autosomal dominant vitreoretinopathy affecting various ocular features and is caused by mutations in the canonical splice sites of the VCAN gene, which encodes the large chondroitin sulfate proteoglycan, versican. We report the identification of novel splice acceptor and donor-site mutations (c.4004-1G>C and c.9265+2T>A) in two large WS families from France and the United Kingdom. To...

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Identifiers

PMID: 22739342
DOI: 10.1038/ejhg.2012.137
PMCID: PMC3573191

Genes

VCAN

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Related research

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Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.PMID 22739342Read ↗

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Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.Semantic proximity Read ↗

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Semantic proximity Read ↗

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.Semantic proximity Read ↗

De novo splice mutation in the versican gene in a family with Wagner syndrome.Semantic proximity Read ↗

Identification of the genetic defect in the original Wagner syndrome family.Semantic proximity Read ↗

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