title: Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.
abstract: BACKGROUND
  Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the full coding sequence of ADAR1 gene.
  
  
  METHODS
  ADAR1 gene was sequenced in seven unrelated families and two sporadic cases with DSH and 120 controls. Functional significance of the observed ADAR1 mutations was analyzed using PolyPhen 2, SIFT and DDIG-in.
  
  
  RESULTS
  We describe six novel mutations of the ADAR1 gene in Chinese patients with DSH including a nonstop mutation p.Stop1227R, which was firstly reported in ADAR1 gene. In silico analysis proves that all the mutations reported here are pathogenic.
  
  
  CONCLUSIONS
  This study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ADAR1 gene. A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.
authors.affiliation: Department of Phototherapy at Shanghai Skin Disease Hospital & Institute of Photomedicine, Tongji University School of Medicine, 1278, Baode Road, Shanghai, 200443, China. zglamu@163.com.
authors.forename: Guolong
authors.initials: G
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Nanjing Medical University, Affiliated Wuxi People's Hospital, Wuxi, 214023, China. smh1974smh@163.com.
authors.forename: Minhua
authors.initials: M
authors.lastname: Shao
authors.affiliation: University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia. zhixiuli@gmail.com.
authors.forename: Zhixiu
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Dermatology, Nanjing Medical University, Affiliated Wuxi People's Hospital, Wuxi, 214023, China. 317815804@qq.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Gu
authors.affiliation: Department of Dermatology, Nanjing Medical University, Affiliated Wuxi People's Hospital, Wuxi, 214023, China. docdxf@126.com.
authors.forename: Xufeng
authors.initials: X
authors.lastname: Du
authors.affiliation: Department of Phototherapy at Shanghai Skin Disease Hospital & Institute of Photomedicine, Tongji University School of Medicine, 1278, Baode Road, Shanghai, 200443, China. wangxiuli20150315@163.com.
authors.forename: Xiuli
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665, Kongjiang Road, Shanghai, 200092, China. aypyslm@163.com.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase