Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria

Abstract

Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare pigmentary genodermatosis with an autosomal dominant mode of inheritance that is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal regions of the extremities and freckle-like macules on the face. ADAR1 is the corresponding causal gene of DSH.¹Here, we report a novel heterozygous mutation in the ADAR1 gene in a Chinese family with DSH that may potentially be responsible for the observed clinical presentations, which differ from those previously described.

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