Gene mutation analysis of a family with autosomal dominant retinitis pigmentosa

Objective To identify gene mutation in the family affected by autosomal dominant retinitis pigmentosa(ADRP). Methods A family with ADRP was recruited, five affected relatives and five unaffected relatives along with 30 unrelated healthy controls were enrolled in this genetic study. Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS). The candidate genes were validated by sanger sequencing. Results We chose SPATA7, HMCN1, and RHO as the first candidate genes to be validated. The missense mutation c.560G>A(p.Cys187Tyr) was detected in the exon 3 of the RHO gene in the proband and the other 4 affected relatives, but not in 5 unaffected relatives and 30 unrelated controls. Conclusion By using NGS, we have found a heterozygous missense mutation c.560G>A(p.Cys187Tyr) in RHO gene, which is likely associated with ADRP. This finding is critical for genetic counseling and clinical management in this family. Key words: Whole exome sequencing; Retinitis pigmentosa; RHO gene; Genetic conuseling