April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Novel Null Mutations in the EYS Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population
Author Affiliations & Notes
  • D. Sharon
    Dept. of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • D. Bandah-Rozenfeld
    Dept. of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • K. W. Littink
    Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Department of Human Genetics, Raboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • T. Ben-Yosef
    Genetics Dept - Faculty of Med, Technion, Haifa, Israel
  • I. Chowers
    Dept. of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • R. W. J. Collin
    Department of Human Genetics, Raboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • A. I. Den Hollander
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • S. Merin
    Dept. of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • E. Banin
    Dept. of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  • F. P. M. Cremers
    Department of Human Genetics, Raboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Footnotes
    Commercial Relationships  D. Sharon, None; D. Bandah-Rozenfeld, None; K.W. Littink, None; T. Ben-Yosef, None; I. Chowers, None; R.W.J. Collin, None; A.I. Den Hollander, None; S. Merin, None; E. Banin, None; F.P.M. Cremers, None.
  • Footnotes
    Support  Foundation Fighting Blindness (FFB- grant number BR-GE-0607-0395-HUJ), the Stichting Wetenschappelijk Onderzoek Oogziekenhuis Prof. Dr. H.J. Flieringa, Rotterdam, and the Yedidut 1 Research Fund.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 4079. doi:
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      D. Sharon, D. Bandah-Rozenfeld, K. W. Littink, T. Ben-Yosef, I. Chowers, R. W. J. Collin, A. I. Den Hollander, S. Merin, E. Banin, F. P. M. Cremers; Novel Null Mutations in the EYS Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4079.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To characterize the role of EYS, a recently identified retinal disease gene, in families with inherited retinal degenerations in the Israeli and Palestinian populations.

Methods: : Clinical and molecular analyses included family history, ocular examination, full-field electroretinography (ERG), perimetry, autozygosity mapping, mutation detection, and estimation of mutation age.

Results: : We performed autozygosity mapping in 171 consanguineous Israeli and Palestinian families with inherited retinal degenerations. Large homozygous regions including the EYS gene were identified in 17 of the families. EYS mutation analysis in the 17 index cases, followed by genotyping of specific mutations in additional 121 cases with inherited retinal degenerations, revealed five novel null mutations, two of which are founder mutations, in 10 Israeli and Palestinian families with autosomal recessive retinitis pigmentosa (arRP). The most common mutation we identified was a founder mutation in the Moroccan Jewish sub-population. Using the ESTIAGE program, we estimate that the most recent common ancestor lived 26 generations ago. The retinal phenotype in most patients was a typical yet relatively severe RP, with an early age of onset and non-recordable ERGs upon presentation.

Conclusions: : Our results demonstrate that EYS is currently the most commonly mutated arRP gene in the Israeli population, mainly due to founder mutations. EYS mutations were associated with an RP phenotype in all patients, and we predict that the gene plays only a minor role in causing other retinal phenotypes.

Keywords: genetics • retinal degenerations: hereditary • gene screening 
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