title: [Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria].
abstract: OBJECTIVE
  To identify potential mutation of the ADAR1 gene in a Chinese family and a sporadic case affected with dyschromatosis symmetrica hereditaria(DSH).
  
  
  METHODS
  Clinical data and peripheral blood samples from the pedigree and the sporadic patient were collected. Following extraction of genomic DNA, all 15 exons and exon-intron flanking sequences of the ADAR1 gene were amplified by polymerase chain reaction and subjected to direct sequencing.
  
  
  RESULTS
  A novel frame-shift mutation c.2638delG (p.Asp880ThrfsX15) from the patients of the pedigree was detected in exon 8 of the ADAR1 gene. And a novel nonsense mutation c.2867C>A (p.Ser956X) was detected in exon 10 of the ADAR1 gene from the sporadic case. Neither mutation was identified among the unaffected family members nor 100 unrelated healthy controls.
  
  
  CONCLUSIONS
  The frame-shift mutation c.2638delG (p.Asp880ThrfsX15) and the nonsense mutation c.2867C>A (p.Ser956X) in the ADAR1 gene probably underlie the DSH in our patients.
authors.affiliation: Department of Dermatology, The Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China. laowaiaeo@163.com.
authors.forename: Yiping
authors.initials: Y
authors.lastname: Liu
authors.forename: Zhengzhong
authors.initials: Z
authors.lastname: Zhang
authors.forename: Yunzhu
authors.initials: Y
authors.lastname: Mu
authors.forename: Fen
authors.initials: F
authors.lastname: Xiong
authors.forename: Xing
authors.initials: X
authors.lastname: Chen
authors.forename: Hao
authors.initials: H
authors.lastname: Yang
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.forename: Linli
authors.initials: L
authors.lastname: Liu
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D018389:Codon, Nonsense; 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; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D016601:RNA-Binding Proteins; C000595356:ADAR protein, human; D000243:Adenosine Deaminase