Genotype-phenotype analysis and prevalence study of disease-causing mutations in the EYS gene among Japanese patients with retinitis pigmentosa

点击翻译按钮获取中文摘要

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal recessive (ar), autosomal dominant (ad), and X-linked inheritance. This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese arRP patients. We detected 7 very likely pathogenic mutations in 18 patients. Of these 18 patients, second mutant allele could not be detected in 9 patients. Among these 7 mutations, 2 truncating mutations, c.4957_4958insA and c.8868C>A, weredetected in at least one mutated allele in 16% of Japanese arRP patients and may be the most frequent mutations causing RP in the Japanese populations.