Communicated by Haig Kazazian
Mutation in Brief
Article first published online: 5 MAY 2004
© 2004 Wiley-Liss, Inc.
Volume 23, Issue 6, pages 629–630, June 2004
How to Cite
Zhang, X.-J., He, P.-P., Li, M., He, C.-D., Yan, K.-L., Cui, Y., Yang, S., Zhang, K.-Y., Gao, M., Chen, J.-J., Li, C.-R., Jin, L., Chen, H.-D., Xu, S.-J. and Huang, W. (2004), Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum. Mutat., 23: 629–630. doi: 10.1002/humu.9246
Online Citation:Human Mutation, Mutation in Brief #717 (2004) Onlinehttp://www3.interscience.wiley.com/homepages/38515/pdf/mutation/717.pdf
- Issue published online: 5 MAY 2004
- Article first published online: 5 MAY 2004
- Manuscript Accepted: 4 MAR 2004
- Manuscript Received: 30 OCT 2003
- Cited By
- dyschromatosis symmetrica hereditaria;
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and molecular findings of 6 Chinese multi-generation families and 2 sporadic patients with DSH. We found that the same mutation could lead to different phenotypes even in the same family and we did not establish a clear correlation between genotypes and phenotypes. Seven novel heterozygous mutations of ADAR were identified, which were c.2433_2434delAG (p.T811fs), c.2197G>T (p.E733X), c.3286C>T (p.R1096X), c.2897G>T (p.C966F), c.2797C>T (p.Q933X), c.2375delT (p.L792fs) and c.3203-2A>G respectively. Our data add new variants to the repertoire of ADAR mutations in DSH. © 2004 Wiley-Liss, Inc.