title: Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.
abstract: OBJECTIVE
  To report and analyze the mutations of the double-stranded RNA-specific adenosine deaminase (DSRAD) gene in 2 Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH).
  
  
  METHODS
  Pedigree study.
  
  
  METHODS
  Anhui province of China.
  
  
  METHODS
  Two Chinese families, consisting of 19 individuals (family 1) and 5 individuals (family 2).
  
  
  METHODS
  We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. The whole coding region of DSRAD was amplified by polymerase chain reaction, and products were analyzed by direct sequencing.
  
  
  METHODS
  Frameshift DSRAD gene mutations.
  
  
  RESULTS
  The c.3513insC (Arg1171fs) mutation was found in all patients but not in the healthy individuals from family 1, and the c.3220_3224delGCATC (Gly1073fs) mutation was found in 2 patients but not in the healthy members of family 2. These 2 mutations were not found in 96 unrelated control individuals.
  
  
  CONCLUSIONS
  Our data suggest that these 2 novel frameshift mutations in the DSRAD gene could cause DSH in the Chinese Han population and add new variants to the repertoire of DSRAD mutations in DSH.
authors.affiliation: Institute of Dermatology and Department of Dermatology, No. 1 Hospital, Anhui Medical University, and Key Laboratory of Genome Research at Anhui, Hefei, China.
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Pei-Guang
authors.initials: PG
authors.lastname: Wang
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Hu
authors.forename: Kai-Yue
authors.initials: KY
authors.lastname: Zhang
authors.forename: Ya-Gang
authors.initials: YG
authors.lastname: Zhu
authors.forename: Yun-Qing
authors.initials: YQ
authors.lastname: Ren
authors.forename: Wen-Hui
authors.initials: WH
authors.lastname: Du
authors.forename: Guo-Long
authors.initials: GL
authors.lastname: Zhang
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Chen
authors.forename: Kai-Lin
authors.initials: KL
authors.lastname: Yan
authors.forename: Feng-Li
authors.initials: FL
authors.lastname: Xiao
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D011379:Prognosis
chemical_list: D000243:Adenosine Deaminase