Mutation Analysis of the ADAR1 Gene in a Family with Dyschromatosis Symmetrica Hereditaria

Objective To detect the mutations of ADAR1 gene in a dyschromatosis symmetrica hereditaria (DSH) family and to analysis the correlation ship between genotypes and clinical phenotypes. Methods Pedigree investigation of the patient with DSH was performed and the genomic DNA was extracted from the peripheral blood samples of 7 members in the family and 100 unreleated volunteers. Regarding ADAR1 gene as the targeted gene, all 15 exons of the ADAR1 gene were amplified by PCR, and then the PCR products were sequenced. Results A two-nucleotide deletion mutation (c.1096_1097delAA) in exon 2 of ADAR1 gene was identified from 5 of 7 members in this DSH family. The mutation of ADAR1 gene in proband’s mother was homozygous and the mutation in proband as well as in his sister, uncle and cousin was heterozygous. The mutation of ADAR1 gene was not checked out from other members of the family and control individuals. Conclusion The two-nucleotide deletion mutation (c.1096_1097delAA, p.K366fsX) in exon 2 of ADAR1 gene was found firstly in Chinese family with DSH.