A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Abstract

Background: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To date, only three articles testified that DSH is caused by the mutations of DSRAD gene (also called ADAR1) encoding for RNA-specific adenosine deaminase.

Objective: To identify mutations of DSRAD as the disease-causing gene and recognize different mutations giving a clue to insight into the mechanism of DSH.

Methods: We collected a Chinese DSH family consisting of a total of 11 individuals including five DSH patients (three males and two females). The whole coding region of DSRAD was amplified by polymerase chain reaction and products analyzed by direct sequencing.

Results: We detected a transition, 3463 C>T, leading to a missense mutation (R1155W) in genomic DNAs of five patients, and the point mutation was not found in normal individuals in this DSH family and in 100 unrelated, population-match control individuals.

Conclusion: Our data suggests that R1155W missense mutation is a new mutation in exon 15 of DSRAD gene and further testify that DSRAD gene is the pathogenic gene of DSH.