Novel ADAR1 mutations including single amino acid deletion in the deaminase domain underly dyschromatosis symmetrica hereditaria

Abstract

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance. It is characterized by hyperpigmented and hypopigmented macules on the dorsal hands and feet. Previous work has shown that a heterozygous ADAR1 mutation of the RNA-editing enzyme of adenosine deaminase acting on the RNA 1 (ADAR1) gene causes DSH, although the pathomechanism has not been clarified yet. In the present study, we identified two novel heterozygous ADAR1 mutations, one frameshift mutation c.536insC which results in p.Leu179fsX217 and the single amino acid deletion c.2615-7delTCA which results in p.Ile873del.