Exclusion of PPEF as the gene causing X-linked juvenile reinoschisis

Esther Van de Vosse, Brunella Franco, Paola Van der Bent, Eugenio Montini, Ulrike Orth, Andre Hanauer, Nel Tijmes, Gert Jan B Van Ommen, Andrea Ballabio, Johan T. Den Dunnen, Arthur A B Bergen

Research output: Contribution to journalArticlepeer-review


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

Original languageEnglish
Pages (from-to)235-237
Number of pages3
JournalHuman Genetics
Issue number2
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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