title: Two novel frameshift mutations of the DSRAD gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.
abstract: BACKGROUND
  Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant disorder characterized by a mixture of hyperpigmented and hypopigmented macules localized on the back of the extremities and caused by the mutations in the DSRAD gene.
  
  
  METHODS
  Two Chinese pedigrees of typical DSH were subjected to mutation detection in DSRAD. Direct sequencing of all PCR products of the whole coding regions of DSRAD was performed to identify the mutation.
  
  
  RESULTS
  The c.1615delG (p.V539fs) mutation was found in the affected members but not in the healthy individuals in family 1 and the c.ins1372-9 CCACAGAT (p.D458fs) mutation was found in patients but not in the healthy members of family 2.
  
  
  CONCLUSIONS
  Our study found two novel frameshift mutations in the DSRAD gene. We add new variants to the knowledge of DSRAD mutations in DSH.
authors: Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China. liuyan95@126.com
authors: Yan
authors: Y
authors: Liu
authors: Feng
authors: F
authors: Liu
authors: Xiaopeng
authors: X
authors: Wang
authors: Jia
authors: J
authors: Huo
authors: Qingqiang
authors: Q
authors: Xu
authors: Xiaoli
authors: X
authors: Li
authors: Jianwen
authors: J
authors: Ren
authors: Mei
authors: M
authors: Wang
authors: Shengxiang
authors: S
authors: Xiao
authors: Zhenhui
authors: Z
authors: Peng
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics
chemical_list: D000243:Adenosine Deaminase