title: [Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria].
abstract: OBJECTIVE
  To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.
  
  
  METHODS
  Clinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.
  
  
  RESULTS
  A frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.
  
  
  CONCLUSIONS
  The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.
authors.affiliation: Department of Dermatology, Yijishan Hospital, Wannan Medical College, Wuhu, Anhui 241001, P.R.China. jibihua@aliyun.com.
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Chang
authors.forename: Chao
authors.initials: C
authors.lastname: Ci
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Shouyun
authors.initials: S
authors.lastname: Hang
authors.forename: Bihua
authors.initials: B
authors.lastname: Ji
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D017354:Point Mutation; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase