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Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease

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Author

  • Kari Branham
  • Mohammad Othman
  • Matthew Brumm
  • Athanasios J. Karoukis
  • Pelin Atmaca-Sonmez
  • Beverly M. Yashar
  • Sharon B. Schwartz
  • Niamh B. Stover
  • Karmen Trzupek
  • Dianna Wheaton
  • Barbara Jennings
  • Maria Laura Ciccarelli
  • K. Thiran Jayasundera
  • Richard A. Lewis
  • David Birch
  • Jean Bennett
  • Paul A. Sieving
  • Sten Andréasson
  • Jacque L. Duncan
  • Gerald A. Fishman
  • Alessandro Iannaccone
  • Richard G. Weleber
  • Samuel G. Jacobson
  • John R. Heckenlively
  • Anand Swaroop
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Summary, in English

PURPOSE. To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2. METHODS. Simplex males were defined as patients with no known affected family members. Patients were excluded if they had a family history of parental consanguinity. Blood samples from a total of 214 simplex males with a diagnosis of retinal degeneration were collected for genetic analysis. The patients were screened for mutations in RPGR and RP2 by direct sequencing of PCR-amplified genomic DNA. RESULTS. We identified pathogenic mutations in 32 of the 214 patients screened (15%). Of the 29 patients with a diagnosis of COD/CORD, four mutations were identified in the ORF15 mutational hotspot of the RPGR gene. Of the 185 RP patients, three patients had mutations in RP2 and 25 had RPGR mutations (including 12 in the ORF15 region). CONCLUSIONS. This study represents mutation screening of RPGR and RP2 in the largest cohort, to date, of simplex males affected with RP or COD/CORD. Our results demonstrate a substantial contribution of RPGR mutations to retinal degenerations, and in particular, to simplex RP. Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration. (Invest Ophthalmol Vis Sci. 2012;53:8232-8237) DOI:10.1167/iovs.12-11025

Publishing year

2012

Language

English

Pages

8232-8237

Publication/Series

Investigative Ophthalmology & Visual Science

Volume

53

Issue

13

Document type

Journal article

Publisher

Association for Research in Vision and Ophthalmology Inc.

Topic

  • Ophthalmology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1552-5783