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Objective  The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population.    Methods  In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP (spRP) were recruited in this study and ophthalmic examinations were conducted for the diagnosis of RP. Among these patients, whole exome sequencing analysis of 30 RP patients and direct sequencing screening of all  CNGA1  exons of the other 69 RP patients were performed.    Results  Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of  CNGA1  (four patients),  EYS  (three patients) and  SAG  (one patient) in eight patients and potential disease-causing gene variants of  USH2A  (two patients),  EYS  (one patient),  TULP1  (one patient) and  C2orf71  (one patient) in five patients. Screening of an additional 69 arRP/spRP patients for the  CNGA1  gene mutation revealed one patient with a homozygous mutation.    Conclusions  This is the first identification of  CNGA1  mutations in arRP Japanese patients. The frequency of  CNGA1  gene mutation was 5.1% (5/99 patients).  CNGA1  mutations are one of the most frequent arRP-causing mutations in Japanese patients.

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa