Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).
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.
Zhang
Xue-Jun
XJ
Institute of Dermatology; Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China. ayzxj@mail.hf.ah.cn
He
Ping-Ping
PP
Li
Ming
M
He
Chun-Di
CD
Yan
Kai-Lin
KL
Cui
Yong
Y
Yang
Sen
S
Zhang
Kai-Yue
KY
Gao
Min
M
Chen
Jian-Jun
JJ
Li
Cheng-Rang
CR
Jin
Lin
L
Chen
Hong-Duo
HD
Xu
Shi-Jie
SJ
Huang
Wei
W
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
D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase