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