Identification of a novel c. 2633_2634del CT variant of the ADAR gene in a patient with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志

ABSTRACT

Objective@#To explore the genetic etiology of two unrelated patients with dyschromatosis symmetrica hereditaria.@*Methods@#Variant analysis of the ADAR gene was carried out by Sanger sequencing.@*Results@#Patient 1 was found to harbor a c. 2633_2634delCT (p.Ser878fs) in exon 8 of the ADAR gene. The same variant was not found among 100 unrelated individuals. No pathogenic variant of the ADAR gene was found in patient 2. Functional prediction of the ADAR c. 2633_2634delCT (p.Ser878fs) variant indicated it to be pathogenic by losing a catalytic structural domain.@*Conclusion@#The c. 2633_2634delCT (p.Ser878fs) variant of the ADAR gene probably underlies the pathogenesis of DSH in one of the patients.