Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria
Version of Record online: 1 NOV 2011
© 2012 The International Society of Dermatology
International Journal of Dermatology
Volume 51, Issue 8, pages 920–922, August 2012
How to Cite
Liu, Y., Liu, F., Wang, X., Huo, J., Xu, Q., Li, X., Ren, J., Wang, M., Xiao, S. and Peng, Z. (2012), Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria. International Journal of Dermatology, 51: 920–922. doi: 10.1111/j.1365-4632.2011.05209.x
- Issue online: 12 JUL 2012
- Version of Record online: 1 NOV 2011
Background Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant disorder characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by the mutations in the DSRAD gene.
Methods Two Chinese pedigrees of typical DSH were subjected to mutation detection in DSRAD. Direct sequencing of all PCR products of the whole coding regions of DSRAD was performed to identify the mutation.
Results The c.1615delG (p.V539fs) mutation was found in the affected members but not in the healthy individuals in family 1 and the c.ins1372-9 CCACAGAT (p.D458fs) mutation was found in patients but not in the healthy members of family 2.
Conclusion Our study found two novel frameshift mutations in the DSRAD gene. We add new variants to the knowledge of DSRAD mutations in DSH.