Conflicts of interest: None declared
The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described
Article first published online: 28 JUL 2005
British Journal of Dermatology
Volume 153, Issue 2, pages 342–345, August 2005
How to Cite
Sun, X.-K., Xu, A.-E., Chen, J.-F. and Tang, X. (2005), The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. British Journal of Dermatology, 153: 342–345. doi: 10.1111/j.1365-2133.2005.06572.x
- Issue published online: 28 JUL 2005
- Article first published online: 28 JUL 2005
- Accepted for publication 27 October 2004
- DSRAD gene;
- dyschromatosis symmetrica hereditaria;
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.3247CT (p.R1083C), and one recurrent mutation c.1420CT (p.R474X), were found in this series of Chinese patients with DSH.