Skip to main content

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Publication ,  Journal Article
Branham, K; Othman, M; Brumm, M; Karoukis, AJ; Atmaca-Sonmez, P; Yashar, BM; Schwartz, SB; Stover, NB; Trzupek, K; Wheaton, D; Jennings, B ...
Published in: Investigative ophthalmology & visual science
December 2012

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.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.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).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.

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Investigative ophthalmology & visual science

DOI

EISSN

1552-5783

ISSN

0146-0404

Publication Date

December 2012

Volume

53

Issue

13

Start / End Page

8232 / 8237

Related Subject Headings

  • Sex Distribution
  • Retinitis Pigmentosa
  • Registries
  • Random Amplified Polymorphic DNA Technique
  • Pedigree
  • Ophthalmology & Optometry
  • Mutation
  • Membrane Proteins
  • Male
  • Intracellular Signaling Peptides and Proteins
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Branham, K., Othman, M., Brumm, M., Karoukis, A. J., Atmaca-Sonmez, P., Yashar, B. M., … Swaroop, A. (2012). Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative Ophthalmology & Visual Science, 53(13), 8232–8237. https://doi.org/10.1167/iovs.12-11025
Branham, Kari, Mohammad Othman, Matthew Brumm, Athanasios J. Karoukis, Pelin Atmaca-Sonmez, Beverly M. Yashar, Sharon B. Schwartz, et al. “Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.Investigative Ophthalmology & Visual Science 53, no. 13 (December 2012): 8232–37. https://doi.org/10.1167/iovs.12-11025.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative ophthalmology & visual science. 2012 Dec;53(13):8232–7.
Branham, Kari, et al. “Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.Investigative Ophthalmology & Visual Science, vol. 53, no. 13, Dec. 2012, pp. 8232–37. Epmc, doi:10.1167/iovs.12-11025.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative ophthalmology & visual science. 2012 Dec;53(13):8232–8237.

Published In

Investigative ophthalmology & visual science

DOI

EISSN

1552-5783

ISSN

0146-0404

Publication Date

December 2012

Volume

53

Issue

13

Start / End Page

8232 / 8237

Related Subject Headings

  • Sex Distribution
  • Retinitis Pigmentosa
  • Registries
  • Random Amplified Polymorphic DNA Technique
  • Pedigree
  • Ophthalmology & Optometry
  • Mutation
  • Membrane Proteins
  • Male
  • Intracellular Signaling Peptides and Proteins