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Updated: Aug 19, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica
Min Gao1, Pei-Guang Wang, Sen Yang
1Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, and Key Laboratory of Genome Research at Anhui, Hefei, China.
Objective:
To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH).
Design:
Pedigree study.
Setting:
Anhui province of China.
Patients:
Two Chinese families, consisting of 19 individuals (family 1) and 5 individuals (family 2).
Interventions:
We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. The whole coding region of DSRAD was amplified by polymerase chain reaction, and products were analyzed by direct sequencing.
Main Outcome Measures:
Frameshift DSRAD gene mutations.
Results:
The c.3513insC (Arg1171fs) mutation was found in all patients but not in the healthy individuals from family 1, and the c.3220_3224delGCATC (Gly1073fs) mutation was found in 2 patients but not in the healthy members of family 2. These 2 mutations were not found in 96 unrelated control individuals.
Conclusion:
Our data suggest that these 2 novel frameshift mutations in the DSRAD gene could cause DSH in the Chinese Han population and add new variants to the repertoire of DSRAD mutations in DSH.
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