Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations inCSPG2/VersicanThat Result in an Imbalance of Splice Variants
Investigative Ophthalmology & Visual Science2006Vol. 47(8), pp. 3565–3565
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Arijit Mukhopadhyay, Konstantinos Nikopoulos, Alessandra Maugeri, Arjan P.M. de Brouwer, C. E. Van Nouhuys, Camiel J.F. Boon, Rahat Perveen, Hester A. A. Zegers, D. Wittebol‐Post, P.R. van den Biesen, Saskia D. van der Velde-Visser, Han G. Brunner, Graeme C. Black, Carel B. Hoyng, Frans P.M. Cremers
Abstract
Wagner disease and ERVR are allelic disorders. Seven of the eight families exhibit a variant in intron 7 of CSPG2/Versican. The conspicuous clustering of sequence variants in the splice acceptor site of intron 7 and the consistent upregulation of the V2 and V3 isoforms strongly suggest that Wagner disease and ERVR may belong to a largely overlooked group of diseases that are caused by mRNA isoform balance shifts, representing a novel disease mechanism.
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