Novel Homozygous Frameshift Insertion Mutation in the Rpe65 Gene Causes Autosomal Recessive Retinitis Pigmentosa

Background and aim: retinitis pigmentosa is a kind of inherited disease related to retinal dystrophies with night blindness and progressive blindness in daylight. this study is based on investigating the causing mutations for retinitis pigmentosa (rp) patient in an iranian family. methods: whole exome sequencing (wes) performed on proband to screen pathogenic mutations and also sanger sequencing performed on family members in order to confirm whether the detected mutation was related to the disease. results: this research revealed a frameshift insertion mutation which inherited from heterozygous unaffected carriers to affected individuals as a homozygous frameshift insertion mutation in the rpe65 gene (nm_000329: exon9: c.886dupa: p.r296fs). therefore, this mutation has been identified as the cause of autosomal recessive retinitis pigmentosa (arrp). conclusion: homozygous frameshift insertion mutation (nm_000329:c.886dupa: p.r296fs) in exon9 of rpe65 is reported in a family as the cause of autosomal recessive retinitis pigmentosa for the first time.