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Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)
Author(s) -
Zhang XueJun,
He PingPing,
Li Ming,
He ChunDi,
Yan KaiLin,
Cui Yong,
Yang Sen,
Zhang KaiYue,
Gao Min,
Chen JianJun,
Li ChengRang,
Jin Lin,
Chen HongDuo,
Xu ShiJie,
Huang Wei
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9246
Subject(s) - adar , genodermatosis , genetics , biology , phenotype , mutation , gene , adenosine deaminase , genotype phenotype distinction , intron , rna editing , endocrinology , adenosine
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.