Mutationa analysis of the ADAR1 gene in three Chinese families with dyschromatosis symmetrica hereditaria

Abstract

Objective To detect mutations of the ADAR1 gene in three Chinese families with dyschromatosis symmetrica hereditaria (DSH).Methods DNA was extracted from the blood samples of seven patients with DSH and their 33 relatives in three families with DSH as well as from 50 unrelated healthy controls.PCR and direct sequencing were performed to detect mutations in the ADAR1 gene.Results All the patients carried mutations in the ADAR1 gene.Three mutations were identified,including one frameshift mutation c.2433-2434delAG in family 2 and two missense mutations,i.e.,c.1760A ＞ G (p.Y587C) in family 1 and c.3620G ＞ T (p.G1207V) in family 3.No mutations were found in the ADAR1 gene in unaffected individuals in these families or the healthy controls.Conclusion Two novel missense mutations are found in the ADAR1 gene of two Chinese families,which may represent a molecular mechanism underlying the development of DSH.