A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features

Abstract

Dyschromatosis symmetrica hereditaria (DSH), which characterized by hyper- or hypopigmented macules on the dorsal aspect of distal extremities and freckle-like macules on the face, is a rare pigmented genodermatosis that usually restricted to the skin. Generally, DSH is considered autosomal dominant, and adenosine deaminase acting on the RNA-1 (ADAR1) gene is one of the responsible genes [1]. ADAR catalyses adenosine-to-inosine (A-to-I) editing of dsRNA substrates, which plays an important role in posttranscriptional regulatory processes. Here, we present a novel frameshift mutation of ADAR1 gene in a Chinese DSH pedigree.

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