A novel RP1 truncating mutation that causes autosomal dominant retinitis pigmentosa (ADRP)

Background: Retinitis pigmentosa (RP) is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide. Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss. Retinitis Pigmentosa 1 (RP1), also known as the oxygen-regulated protein-1, is a microtubule-associated protein (MAP) that organizes the outer segment of the photoreceptor. Besides, mutations in the RP1 gene are associated with dominant or recessive form of RP. This study aims to identify the potential pathogenic genes in Chinese RP patients and to elucidate the association relationship between the mutant gene and the phenotypes. Methods: Multiple ophthalmic examinations, whole-exome sequencing, sanger sequencing, and in silico analysis were performed to evaluate the clinical features and pathogenic genes in a five-generation Chinese family diagnosed with RP. Results: Our findings revealed a novel truncating mutation c.2015_2018del p. (Lys672Argfs*9) in RP1 that may result in the translation of a protein with deleterious effects on photoreceptors. Therefore, resulting in autosomal dominant retinitis pigmentosa (ADRP). Conclusions: This study broaden the range of genetic mutations associated with RP1 in ADRP and make a valuable contribution to the ongoing endeavors aimed at characterizing the molecular aspects of Chinese ADRP. Future studies would pay more attention in determining the characterization of the mutantations in RP1 gene and the relationship between genotype and phenotype in RP patients.