Novel mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria.

The article presents a case study of two Chinese families with dyschromatosis symmetrica hereditaria (DSH) who exhibited pathogenic mutations in the adenosine deaminase acting on RNA 1 (ADAR1) gene. Topics discussed include the amplification of ADAR1 gene through polymerase chain reaction, the amino acid change through the missense mutation, and the genes participating in melanosome synthesis and transport and melanocyte development.