Gene Mutation Screening Of A Family With Retinitis Pigmentosa And Acropathy

ObjectiveTo detect the mutation in a family with retinitis pigmentosa and acropathy, using candidate genes screening.Materials and Methods1. Clinical data were collected in this family. All family members were studied with medical history, ophthalmologic examinations, ERG, VEP and whole body physical examinations.2. Venous blood was collected from research subjects and genomic DNA was extracted.3. Candidate genes were determined by reviewing literature and online databases.4. To screen the genes USH2A and RPGR, linkage analysis were performed after detecting the microsatellite markers of this family.5. To screen the genes RHO, PRPF3, PRPF8, PRPF31, RP1, RDS, RP10and RPGR, primers were designed and direct sequencing were performed after PCR. Then results were compared with web databases.ResultsPatients in this family manifest retinal degeneration with acropathy, which represent a novel retinitis pigmentosa syndrome. The inheritance pattern is not clear, we consider autosomal dominant most possible. The screening of RHO, PRPF3, PRPF8, PRPF31, RDS, RP10and RPGR genes in the proband of YPH family were negative.We found a novel mutation in RP1gene (D998Y) in the proband. D998Y is thought to be pathologic by bioinformatic evaluation, but it does not cosegregate with the patients in this family. Further evaluation is needed to determine this mutation.ConclusionWhether RP1D998Y mutation is the disease-causing mutation in YPH family should be further evaluated.We consider a novel disease-causing mutation may exist in YPH family.