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J. A. Poulter, D. F. Gilmour, I. M. Carr, E. Sheridan, A. J. Churchill, A. F. Markham, H. C. Ardley, M. Ali, C. F. Inglehearn, C. Toomes; Identification of a New Locus for Non-Syndromic Recessive Optic Atrophy on Chromosome 20 (ROA3). Invest. Ophthalmol. Vis. Sci. 2010;51(13):2598.
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Non-syndromic recessive optic atrophy is a rare but under reported form of optic neuropathy. To date only one gene (TMEM126A) and locus (ROA1 on 8q) have been identified. The purpose of this study was to investigate a large consanguineous pedigree with multiple cases of optic atrophy.
A whole genome autozygosity search was undertaken by processing DNA from affected family members with SNP microarrays and analysing the data using IBDfinder software. Candidate loci were confirmed by genotyping all available family members with microsatellites. Multipoint lod scores were calculated using Superlink.
SNP data identified two potential regions of homozygosity but further genotyping with microsatellites only confirmed one of these, a locus on chromosome 20p. Multipoint linkage analysis with these microsatellites produced a maximum lod score of 4.8. The refined locus spans 6-Mb between D20S160 and D20S161.
We have identified a new locus for non-syndromic recessive optic atrophy on chromosome 20p which we have termed ROA3. Mutation screening of candidate genes from this region is currently being performed to identify the mutated gene. Correspondence: email@example.com
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