Journal
HUMAN MUTATION
Volume 23, Issue 6, Pages 629-+Publisher
WILEY
DOI: 10.1002/humu.9246
Keywords
dyschromatosis symmetrica hereditaria; DSH; ADAR; Chinese; genotype-phenotype
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Funding
- National Natural Science Foundation of China [30170529]
- Chinese High Tech Program (863) [2001AA227031, 2001AA224021, 2002BA711A10]
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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. (C) 2004 Wiley-Liss, Inc.
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