ADAR nonsense variant in a Vietnamese patient with dyschromatosis symmetrica hereditaria

Abstract Dyschromatosis symmetrica hereditaria is an autosomal dominant genodermatosis. We report a Vietnamese child with mottled hyperpigmented and hypopigmented macules on the dorsal hands and feet. Genetic testing identified a heterozygous ADAR nonsense variant, c.1944C>A (p.(Tyr648Ter)), also present in his mother and classified as likely pathogenic. To our knowledge, this variant has not previously been reported, and this is one of the few molecularly confirmed Dyschromatosis symmetrica hereditaria cases reported in Vietnam.