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

E. van de Vosse; B. Franco; P. van der Bent; E. Montini; U. Orth; A. Hanauer; N. Tijmes; G. J. van Ommen; A. Ballabio; J. T. den Dunnen; A. A. Bergen

doi:https://doi.org/10.1007/s004390050622

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

E. van de Vosse, B. Franco, P. van der Bent, E. Montini, U. Orth, A. Hanauer, N. Tijmes, G. J. van Ommen, A. Ballabio, J. T. den Dunnen, A. A. Bergen

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4 Citations (Scopus)

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

Original language	English
Pages (from-to)	235-237
Journal	Human genetics
Volume	101
Issue number	2
DOIs	https://doi.org/10.1007/s004390050622
Publication status	Published - 1997

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https://doi.org/10.1007/s004390050622

Cite this

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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",

author = "{van de Vosse}, E. and B. Franco and {van der Bent}, P. and E. Montini and U. Orth and A. Hanauer and N. Tijmes and {van Ommen}, {G. J.} and A. Ballabio and {den Dunnen}, {J. T.} and Bergen, {A. A.}",

year = "1997",

doi = "https://doi.org/10.1007/s004390050622",

language = "English",

volume = "101",

pages = "235--237",

journal = "Human genetics",

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TY - JOUR

T1 - Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis

AU - van de Vosse, E.

AU - Franco, B.

AU - van der Bent, P.

AU - Montini, E.

AU - Orth, U.

AU - Hanauer, A.

AU - Tijmes, N.

AU - van Ommen, G. J.

AU - Ballabio, A.

AU - den Dunnen, J. T.

AU - Bergen, A. A.

PY - 1997

Y1 - 1997

N2 - 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

AB - 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

U2 - https://doi.org/10.1007/s004390050622

DO - https://doi.org/10.1007/s004390050622

M3 - Article

C2 - 9402977

SN - 0340-6717

VL - 101

SP - 235

EP - 237

JO - Human genetics

JF - Human genetics

IS - 2

ER -