Article
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Investigative ophthalmology & visual science - 1 Aug 2006
Mukhopadhyay Arijit, Nikopoulos Konstantinos, Maugeri Alessandra, de Brouwer Arjan P M, van Nouhuys C Eric, Boon Camiel J F, Perveen Rahat, Zegers Hester A A, Wittebol-Post Dienke, van den Biesen Pieter R, van der Velde-Visser Saskia D, Brunner Han G, Black Graeme C M, Hoyng Carel B, Cremers Frans P M
Abstract excerpt
PURPOSE: Linkage intervals for erosive vitreoretinopathy (ERVR) and Wagner disease previously were found to overlap at 5q14.3. In a Japanese family with Wagner disease, a CSPG2/Versican splice site mutation (c.4004-2A-->G) was recently reported that resulted in a 39-nucleotide exon 8 in-frame deletion. We investigated whether CSPG2/Versican was mutated in six Dutch families and one Chinese family with Wagner...
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