title: Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.
abstract: 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.
authors.affiliation: MGC-Department of Human Genetics, Leiden University, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: van de Vosse
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: P
authors.initials: P
authors.lastname: van der Bent
authors.forename: E
authors.initials: E
authors.lastname: Montini
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: A
authors.initials: A
authors.lastname: Hanauer
authors.forename: N
authors.initials: N
authors.lastname: Tijmes
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: J T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
mesh_terms: D017668:Age of Onset; D015785:Eye Diseases, Hereditary / Q000209:etiology / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D010749:Phosphoprotein Phosphatases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012162:Retinal Degeneration / Q000209:etiology / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations / Q000209:etiology / Q000235:genetics*; D014960:X Chromosome
chemical_list: C107424:PPEF1 protein, human; D010749:Phosphoprotein Phosphatases