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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)
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.
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.
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.
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.
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