Genetic mutations causing blindness: c۲orf۷۱ mutation footprint in retinal dystrophy

Objective and background: Histological, molecular, and clinical information helps Diagnosis of the type and degree of night blindness is a clinically andgenetically heterogeneous group of retinal diseases. In this study, we focused on an Iranian relative family with a high prevalence of nightblindness in their pedigree, and reviewed the literature on the C۲ORF۷۱ mutation in eye disease and treatment-focused responses.Method: We chose a family that has a high prevalence of night blindness in their family tree.We studied ocular imaging and clinical signs.Based on patient selection, NGS, PCR, bioinformatics analysis and gene sequencing.Result: A novel nonsense mutation, c.۹۵۸ del C and a reported mutation, c.۹۵۸ del C, in the c۲orf۷۱ gene were detected. Both the nonsensemutations were predicted to lead to the formation of a premature stop codon which finally results into formation of truncated c۲orf۷۱protein product which finally predicted to be disease causing. According to the variant classification guidelines of ACMG, thesetwo variants are categorized as “likely pathogenic” variants. Our findings expand the mutational spectra of c۲orf۷۱ and are valuable inthe mutation-based pre- and post-natal screening and genetic diagnosis for retinitis pimentosa.

Keywords:

retinitis pimentosa , night blindness , C۲ORF۷۱ mutation