April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Molecular Genetic Analysis of Non-syndromic Retinitis Pigmentosa in Indonesia
Author Affiliations & Notes
  • Anna M. Siemiatkowska
    Department of Human Genetics,
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Kentar Arimadyo
    Department of Human Genetics,
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Ophthalmology, Diponegoro University, Semarang, Indonesia
  • Luminita M. Moruz
    Department of Human Genetics,
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden
  • Marta de Castro-Miro
    Department of Human Genetics,
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Tim M. Strom
    Institute of Human Genetics, Helmholtz Zentrum Munchen, Munich, Germany
  • Sultana M. Faradz
    Department of Ophthalmology, Diponegoro University, Semarang, Indonesia
  • Frans P. Cremers
    Department of Human Genetics,
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Anneke I. den Hollander
    Department of Human Genetics,
    Department of Ophthalmology,
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Rob W. Collin
    Department of Human Genetics,
    Department of Ophthalmology,
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Footnotes
    Commercial Relationships  Anna M. Siemiatkowska, None; Kentar Arimadyo, None; Luminita M. Moruz, None; Marta de Castro-Miro, None; Tim M. Strom, None; Sultana M. Faradz, None; Frans P. Cremers, None; Anneke I. den Hollander, None; Rob W. Collin, None
  • Footnotes
    Support  Netherlands Organisation for Scientific Research (grant 40-00812-98-09047) and the Foundation Fighting Blindness USA
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 66. doi:
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      Anna M. Siemiatkowska, Kentar Arimadyo, Luminita M. Moruz, Marta de Castro-Miro, Tim M. Strom, Sultana M. Faradz, Frans P. Cremers, Anneke I. den Hollander, Rob W. Collin; Molecular Genetic Analysis of Non-syndromic Retinitis Pigmentosa in Indonesia. Invest. Ophthalmol. Vis. Sci. 2011;52(14):66.

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

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Abstract

Purpose: : Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous retinal disorder. Despite tremendous knowledge about the genes involved in RP, nothing is known about the genetic causes of RP in the Indonesian population. Therefore we investigated the mutation spectrum in Indonesian RP families.

Methods: : DNA samples from 16 Indonesian RP families were collected. In 14 families with an apparent autosomal recessive (ar) mode of inheritance, homozygosity mapping was conducted using Illumina 6k or Affymetrix 5.0 SNP arrays. Known arRP genes residing in homozygous regions were sequenced for mutations. In two families segregating autosomal dominant RP (adRP), the most frequently mutated adRP gene RHO, encoding rhodopsin, was sequenced.

Results: : In 7 of the 14 arRP families, novel homozygous mutations were identified in ABCA4, CRB1, EYS, MERTK, NR2E3 and PDE6A. In one of the two adRP families, a previously described heterozygous mutation in RHO was identified.

Conclusions: : Homozygosity mapping is a powerful tool to identify the genetic defects underlying RP in the Indonesian population. Compared to other populations, the same genes appear to be involved in the aetiology of RP, although the majority of mutations are novel and may be unique for the Indonesian population.

Keywords: genetics • gene mapping • retinal degenerations: hereditary 
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