A New Novel Mutation Of ADAR1 Gene In A Family With Dyschromatosis Symmetrica Hereditaria

Objectives:(1)To report a Chinese pedigree with Dyschromatosis symmetrica hereditaria (DSH) and detect mutations of ADAR1 gene in this family members.(2)To delineate the clinical and genetic features of DSH cases by literature reviewMethods:(1)We investigated a Chinese family with DSH,collected clinical datas and Genomic DNAs were extracted,and the whole coding region of ADAR1 gene were amplified by PCR followed by direct sequencing.100 unrelated population matched were made.(3)All reported papers about DSH with ADAR1 mutations were reviewed and the genetic and clinical features were summarized.Results:(1)Fourteen individuals belonging to four consecutive generations were similarly affected in this DSH family.(2)A novel nonsense mutation c.2857A>T(p.K953X) was detected in ADAR1 gene of all affected people.This mutation was not found in the healthy members of the family and 100 unrelated control individuals.(3)We summarized Forty reported DSH families with ADAR1 gene mutations and the family in our research.Conclusions:(1)The nonsense observed in the ADAR1 gene is a novel mutation.(2)A clear correlation between genotypes and phenotypes has not been found.