May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Novel Mutations Identified in a Screen of Patients With Autosomal Dominant Retinitis Pigmentosa
Author Affiliations & Notes
  • L.S. Sullivan
    Human Genetics Center, Univ. of Texas - Houston, Houston, TX, United States
  • S.J. Bowne
    Human Genetics Center, Univ. of Texas - Houston, Houston, TX, United States
  • M.M. Hills
    Human Genetics Center, Univ. of Texas - Houston, Houston, TX, United States
  • J.R. Heckenlively
    Jules Stein Eye Institute, UCLA, Los Angeles, CA, United States
  • D.G. Birch
    Retina Foundation of the Southwest, Dallas, TX, United States
  • D. Hughbanks-Wheaton
    Retina Foundation of the Southwest, Dallas, TX, United States
  • J.E. Liebelt
    South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, Australia
  • S.P. Daiger
    Human Genetics Center and Dept. of Ophthalmology, Univ. of Texas - Houston, Houston, TX, United States
  • Footnotes
    Commercial Relationships  L.S. Sullivan, None; S.J. Bowne, None; M.M. Hills, None; J.R. Heckenlively, None; D.G. Birch, None; D. Hughbanks-Wheaton, None; J.E. Liebelt, None; S.P. Daiger, None.
  • Footnotes
    Support  NIH/NEI Grants EY07142, EY14170, and EY05235
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 2305. doi:
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    • Get Citation

      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)

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Abstract

Abstract: : 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.

Keywords: retinal degenerations: hereditary • mutations • genetics 
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