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L.S. Sullivan, S.J. Bowne, M.M. Hills, J.R. Heckenlively, D.G. Birch, D. Hughbanks-Wheaton, J.E. Liebelt, S.P. Daiger; Novel Mutations Identified in a Screen of Patients With Autosomal Dominant Retinitis Pigmentosa . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2305.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Patients with a family history suggestive of autosomal dominant retinitis pigmentosa (adRP) were screened for mutations in rhodopsin, peripherin/RDS and RP1. Methods: All coding exons and flanking intron/exon junctions of rhodopsin and peripherin/RDS were sequenced in each individual. For the RP1 gene, the mutation hotspot between nucleotides 1970 and 2365 was screened by either SSCA or sequencing. Results: Probands from 63 independently-ascertained adRP families were screened for mutations in all three genes. In rhodopsin, 11 previously reported mutations were found, as well as 7 novel amino acid substitutions. In peripherin/RDS, 1 previously reported mutation was observed as well as 3 novel amino acid substitutions. Two of these amino acid substitutions do not segregate with disease and therefore appear to be benign variants: RDS Ala116Ser and RDS Gly137Ser. For the RP1 gene we found one occurrence of the common Arg677X mutation as well as a novel 1 bp deletion - RP1 2207delC - that causes protein termination at codon 737. Conclusions: Ten years after the discovery of rhodopsin and peripherin/RDS as causes of adRP, novel disease-causing mutations are still being identified. In a screen of 63 adRP families, 9 of the 22 mutations observed (40%) have not been previously reported. We have also identified 2 new amino acid substitutions in peripherin/RDS that do not appear to cause retinal degeneration.
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