title: Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).
abstract: 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.
authors.affiliation: Institute of Dermatology; Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China. ayzxj@mail.hf.ah.cn
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.forename: Ping-Ping
authors.initials: PP
authors.lastname: He
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Chun-Di
authors.initials: CD
authors.lastname: He
authors.forename: Kai-Lin
authors.initials: KL
authors.lastname: Yan
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Kai-Yue
authors.initials: KY
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Chen
authors.forename: Cheng-Rang
authors.initials: CR
authors.lastname: Li
authors.forename: Lin
authors.initials: L
authors.lastname: Jin
authors.forename: Hong-Duo
authors.initials: HD
authors.lastname: Chen
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005145:Face; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D010859:Pigmentation Disorders / Q000201:enzymology / Q000235:genetics*; D016601:RNA-Binding Proteins
chemical_list: D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase