Objective Stargardt disease(STGD) is the most common form of inherited juvenile macular dege neration. In this study, we try to explore the molecular genetics of STGD in a Chinese family and t o broaden the knowledge ...
详细信息
Objective Stargardt disease(STGD) is the most common form of inherited juvenile macular dege neration. In this study, we try to explore the molecular genetics of STGD in a Chinese family and t o broaden the knowledge of PROM1 mutations and the associated phenotypes. Method Whole exome sequencing was conducted in four affected family members and clinical da ta including fundus photographs and Fundus Fluorescein Angiography were performed. Result Exome sequencing revealed a recurrent heterozygous mutation c.1117 C>T(p.R373 C) in PROM1 gene was the causative mutation of the family. After summarizing all the reported mutatio ns of PROM1, 31 pathogenic mutations in total were reported, including nine splicing, eight deleti on, seven nonsense, four missense and three insertion mutations. Mutation p.R373 C was not onl y the most common mutation, but also the only mutation which had an evidence of causing disea se in a single heterozygous state, all the others were homozygous or compound heterozygous. Al though p.R373 C was reported in different phenotypes, bull‘s eye maculopathy is the common sign. Conclusion We detected a p.R373 C mutation in PROM1 gene, and the mini-review of genotype and phenotype of PROM1 gene will benefit to the interpretation of the pathogenicity of PROM1 va riants.
暂无评论