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M.G. Papaioannou, C.F. Chakarova, Q.C. Prescott, I. Lopez, T. Theis, N. Waseem, R.K. Koenekoop, S.S. Bhattacharya; A New Locus (RP31) for Autosomal Dominant Retinitis Pigmentosa Maps on Chromosome 9p . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3275.
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© ARVO (1962-2015); The Authors (2016-present)
Autosomal dominant retinitis pigmentosa (adRP) is a very common form of pigmentary retinopathy that follows mendelian inheritance. adRP shows remarkable genetic heterogeneity with at least 12 major loci/genes. The purpose of this study was to genetically map a large French Canadian adRP family of our series after exclusion of the known loci.
Full clinical examination (including visual acuity, fundoscopy, and ERG) was performed and pedigree data was collated. Linkage using flanking markers for each of the 12 known adRP loci was excluded, prior to a 10 cM genome–wide scan using ∼400 fluorescently–labelled markers (Linkage Mapping Set, Applied Biosystems). Automated sequencing was used to sequence candidate genes from the linked region for causative mutations.
After genotyping 26 members of the French Canadian family including 14 affecteds, firm linkage was established with markers from the short arm of chromosome 9 (highest two–point LOD score= 6.3 at recombination fraction θ = 0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM. Sequencing the exons and intron–exon boundaries of five candidate genes in this region, namely SLC24A2, ELAV–L2, MTAP, ACO1, and FAM29A, did not identify any disease causing mutations.
We have now identified a new family with autosomal dominant retinitis pigmentosa that clearly demonstrates the presence of a new locus (RP31) on the short arm of chromosome 9, the only known locus for retinal degeneration on chromosome 9 to date. We are currently characterising more genes from the RP31 interval to be screened for mutations in order to identify the disease gene at this locus.
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