March 2012
Volume 53, Issue 14
Free
ARVO Annual Meeting Abstract  |   March 2012
An Adenine Insertion between Nucleotide Positions 4957 and 4958 in the EYS Gene Is a Possible Major Cause of arRP in the Japanese Population
Author Affiliations & Notes
  • Katsuhiro Hosono
    Ophthalmology,
    Hamamatsu Univ School of Med, Hamamatsu, Japan
  • Chie Ishigami
    Laboratory for Retinal Regeneration, Ctr for Developmental Biology RIKEN, Kobe, Japan
  • Masayo Takahashi
    Laboratory for Retinal Regeneration, Ctr for Developmental Biology RIKEN, Kobe, Japan
  • Yasuhiko Hirami
    Ophthalmology, Inst for Biomed Research and Innovation, Kobe, Japan
  • Shinji Ueno
    Ophthalmology, Nagoya Univ School of Med, Nagoya, Japan
  • Noriyuki Azuma
    Ophthalmology, Natl Ctr for Child Hlth & Developmt, Setagaya-ku, Japan
  • Hiroko Terasaki
    Ophthalmology, Nagoya Univ School of Med, Nagoya, Japan
  • Mineo Kondo
    Ophthalmology, Nagoya Univ School of Med, Nagoya, Japan
    Ophthalmology, Mie Univ School of Med, Tsu, Japan
  • Shinsei Minoshima
    Basic Medical Photonics Laboratory,
    Hamamatsu Univ School of Med, Hamamatsu, Japan
  • Yoshihiro Hotta
    Ophthalmology,
    Hamamatsu Univ School of Med, Hamamatsu, Japan
  • Footnotes
    Commercial Relationships  Katsuhiro Hosono, None; Chie Ishigami, None; Masayo Takahashi, None; Yasuhiko Hirami, None; Shinji Ueno, None; Noriyuki Azuma, None; Hiroko Terasaki, None; Mineo Kondo, None; Shinsei Minoshima, None; Yoshihiro Hotta, None
  • Footnotes
    Support  Japan Society for the Promotion of Science (Grant-in-Aid for Scientific Research C 23592561 and Grant-in-Aid for Young Scientists B 23791975)
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 4598. doi:https://doi.org/
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    • Get Citation

      Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Yasuhiko Hirami, Shinji Ueno, Noriyuki Azuma, Hiroko Terasaki, Mineo Kondo, Shinsei Minoshima, Yoshihiro Hotta; An Adenine Insertion between Nucleotide Positions 4957 and 4958 in the EYS Gene Is a Possible Major Cause of arRP in the Japanese Population. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4598. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal recessive (ar), autosomal dominant (ad), and X-linked inheritance. Recently, arRP has been associated with mutations in EYS (Eyes shut homolog), which is a major causative gene for this disease. This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese arRP patients.

Methods: : To determine the prevalence of EYS mutations, all EYS exons were screened for mutations by polymerase chain reaction amplification, and sequence analysis was performed.

Results: : We detected 67 sequence alterations in EYS, of which 21 were novel. Of these, 7 were very likely pathogenic mutations, 6 were possible pathogenic mutations, and 54 were non-pathogenic sequence alterations. The minimum observed prevalence of distinct EYS mutations in our study is 18% (18/100, with 9 of 18 patients bearing very likely pathogenic mutations having single mutations). In addition, a novel insertion, c.4957_4958insA, was detected in 12 patients.

Conclusions: : This report is the first molecular genetic analysis of the EYS gene in a cohort of unrelated Japanese RP patients. The 18% estimated prevalence of very likely pathogenic mutations in our study suggests a major involvement of EYS in the pathogenesis of arRP in the Japanese population, and that 66.7% (12/18 cases) distinct EYS gene mutations are due to the one-base insertion.

Keywords: genetics • retinitis • mutations 
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