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February 2005

Two Frameshift Mutations in the RNA-Specific Adenosine Deaminase Gene Associated With Dyschromatosis Symmetrica Hereditaria

Author Affiliations

Author Affiliations: Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, and Key Laboratory of Genome Research at Anhui (Drs Gao, Wang, Yang, Hu, Zhu, Ren, Du, G.-L. Zhang, Cui, Chen, Yan, Xiao, and X.-J. Zhang), Hefei, China; and Chinese National Human Genome Center at Shanghai, Shanghai, China (Drs K.-Y. Zhang, Xu, and Huang).

Arch Dermatol. 2005;141(2):193-196. doi:10.1001/archderm.141.2.193

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.