Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH) |
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Authors: | Zhang Xue-Jun He Ping-Ping Li Ming He Chun-Di Yan Kai-Lin Cui Yong Yang Sen Zhang Kai-Yue Gao Min Chen Jian-Jun Li Cheng-Rang Jin Lin Chen Hong-Duo Xu Shi-Jie Huang Wei |
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Institution: | Institute of Dermatology; Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China. ayzxj@mail.hf.ah.cn |
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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. |
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Keywords: | dyschromatosis symmetrica hereditaria DSH ADAR Chinese genotype‐phenotype |
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