EXCLUSION OF PPEF AS THE GENE CAUSING X-LINKED JUVENILE RETINOSCHISIS

X-linked juvenile retinoschisis (RS) is a progressive vitreoretinal de generation localised in Xp22.1-p22.2. A human homologue of the retinal degeneration gene C (rdgC), a gene that in Drosophila melanogaster pr events light-induced retinal degeneration, was localised in the KS obl igate gene region. We have tested the gene, designated PPEF in humans, as a candidate gene in RS patients using RT-PCR and the protein trunc ation test on RNA and SSCP on DNA. No mutations were identified, makin g it highly unlikely that PPEF is the gene implicated in KS. The data presented facilitate mutation analysis of the PPEF gene in other disea ses which have been or will be localised to this region.