Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene.

摘要

Dyschromatosis symmetrica hereditaria (DSH: MIM#127400) shows an autosomal dominant pattern of inheritance with high penetrance, which is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities. The phenotypes appear in infancy or early childhood [1], In Asia, the condition occurs predominantly among Japanese and Chinese individuals. Miyamura et al. have clarified that a heterozygous mutation of the adenosine deaminase acting on RNA 1 (ADAR1, formerly DSRAD) gene causes DSH in 4 Japanese DSH families [2]. Subsequently, more than 90 mutations have been reported from East Asian countries so far [3,4,5], which confirmed that the ADAR1 gene is responsible for DSH not only in Japanese but also in other ethnic groups.