, Volume 297, Issue 3, pp 139-142

Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH)

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Abstract

Dyschromatosis symmetrica hereditaria (DSH [MIM 127400]) is characterized by the presence of hyperpigmented and hypopigmented macules mostly on the dorsal aspects of the extremities. Genetic studies have identified mutations in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase, to be responsible for this disorder. Here, we found a novel deletion mutation in the ADAR gene, 2929delA, in a Chinese family with DSH. This mutation is located in codon 977 (AGC→GC), and leads to a frameshift and truncated protein of 250 amino acids with 76 novel amino acids prior to a premature stop codon. The truncated ADAR is predicted to lack the ADEAMc (tRNA-specific and double-stranded RNA adenosine deaminase) domain. This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.

Quinghe Xing and Mingtai Wang contributed equally to this work.