[The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria].

OBJECTIVE: To analyze the mutation of the adenosine deaminase acting on RNA 1 (ADAR1) gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH). METHODS: Mutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls. RESULTS: A missense mutation of c.3463C>T, which results in p.R1155W in the ADAR1 protein, was found in the 2 patients, but was absent in the 2 healthy members in the family and 50 unrelated individuals. CONCLUSION: A missense mutation of c.3463C>T in the ADAR1 gene was detected in the DSH family, which is likely responsible for the pathogenesis of the disease.