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Keywords:

  • DSRAD gene;
  • dyschromatosis symmetrica hereditaria;
  • mutation

Summary

Background  Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA editing enzyme have recently been identified.

Objectives  To identify gene mutations of DSRAD in Chinese patients with DSH.

Methods  Three unrelated Chinese patients with DSH were subjected to mutation detection in DSRAD. Two had family histories of DSH. All the coding exons and their flanking sequences were amplified and sequenced.

Results  All three patients had heterozygous mutations including one non-sense, one frameshift and one missense mutation in DSRAD.

Conclusions  Two novel mutations, c.3169delC (p.L1057fs) and c.3247C[RIGHTWARDS ARROW]T (p.R1083C), and one recurrent mutation c.1420C[RIGHTWARDS ARROW]T (p.R474X), were found in this series of Chinese patients with DSH.