To screen mutations in the PRPF31, RHO,and PRPH2genes in Chinese patients with retinitis pigmentosa (RP).
Patients with RP were recruited from Retina Hong Kong. All the exons of the PRPF31, RHO,and PRPH2genes were amplified and screened for mutations using single-stranded conformation polymorphism analysis followed by DNA sequencing. Frequencies of sequence changes were determined in patients and controls.
In 76 patients from 54 families, 3 pathogenic mutations and 32 nonpathogenic sequence changes were identified. One family with autosomal dominant RP was found to harbor a novel truncating PRPF31mutation (p.Phe262SerfsX59) and a known missense RHOmutation (p.Pro347Leu), and 1 affected woman was heterozygous for both mutations. One simplex RP case was caused by a novel truncating PRPH2mutation (p.Ala78LeufsX99). Thirteen of the 32 nonpathogenic sequence changes were novel and were found in low frequencies in patients with RP and controls.
Mutations in PRPF31, RHO,and PRPH2were found in low frequencies (1 of 9 autosomal dominant RP families) in Chinese patients, and the PRPF31and PRPH2truncating mutations were novel.
A search for a common cause for RP in Chinese patients is needed. The co-occurrence of 2 different gene mutations may modify the phenotype severity.