Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa

RATIONALE: Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous diseases; X-linked retinitis pigmentosa (XLRP) is the most serious type. Mutations in RP GTPase regulator (RPGR) account for over 70% of patients with XLRP. PATIENT CONCERNS: We report a Chinese family with RP, 5 males presented with night blindness and decreased vision, and 8 females showed different severities of myopia. DIAGNOSES: Targeted exome capture sequencing was performed in 2 affected males, which revealed a novel variant (NM_000328.2, c.470-1G>A) in the RPGR gene. The mis-splicing causes a substitution of the 157th amino acid from glutamic acid to glycine and finally the 165th codon is changed to stop codon, possibly resulting in a truncated protein and/or a nonsense-mediated mRNA decay. The mutation cosegregated with the disease phenotype in the family. INTERVENTIONS: Medication and cataract surgery. OUTCOMES: The phenotype of affected males is more serious than that of the carrier females, and the effect of clinical treatment is not very well. LESSONS: Next-generation sequencing is a suitable method for early detection of pathogenic mutations in RP, which would be helpful for prenatal diagnosis of the disease.