Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations in<i>CSPG2</i>/<i>Versican</i>That Result in an Imbalance of Splice Variants

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.