Cyril Burin-des-Roziers, Pierre-Raphael Rothschild, Valérie Layet, Jian-Min Chen, Tiffany Ghiotti, Céline Leroux, Frans P M Cremers, Antoine P Brézin, Sophie Valleix
Wagner disease is a rare nonsyndromic autosomal-dominant vitreoretinopathy, associated with splice mutations specifically targeting VCAN exon 8. We report the extensive genetic analysis of two Wagner probands, previously found negative for disease-associated splice mutations. Next-generation sequencing (NGS), quantitative real-time PCR, and long-range PCR identified two deletions (3.4 and 10.5 kb) removing at least one exon-intron boundary of exon 8, and both correlating with an imbalance of VCAN mRNA isoforms...
January 2017: Human Mutation