title: Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review.
abstract: BACKGROUND
  Congenital atrichia with papular lesions (APL) is characterized by complete absence of body hair shortly after birth, along with papules, and caused by mutations in the hairless gene (HR).
  
  
  OBJECTIVE
  To investigate whether APL with HR mutations might also be found among patients in non-consanguineous Chinese families and to discuss the phenotypic variations with the same mutations.
  
  
  METHODS
  DNA sequencing of the HR was performed in the Chinese pedigree and in 100 controls.
  
  
  RESULTS
  A nonsense mutation c.T2265A in the patient and his father as well as a 2bp deletion (3482delCT) in the patient and his mother were detected.
  
  
  CONCLUSIONS
  Our study identified the first mutation in exon 10 in HR as well as the second novel compound heterozygous mutations in a Chinese family, also adding new variants to the knowledge of HR mutations in APL. Phenotypic heterogeneity in congenital atrichia might be subject to the founder genes or modifier genes.
authors.affiliation: Department of Dermatology, Second Hospital of Xi'an Jiaotong University, Xi'an, PR China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Wang
authors.forename: Chen
authors.initials: C
authors.lastname: Tu
authors.forename: Yiguo
authors.initials: Y
authors.lastname: Feng
authors.forename: Xiaopeng
authors.initials: X
authors.lastname: Wang
authors.forename: Dingwei
authors.initials: D
authors.lastname: Zhang
authors.forename: Shengxiang
authors.initials: S
authors.lastname: Xiao
mesh_terms: D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D044466:Asian People; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D005091:Exons / Q000235:genetics; D018859:Hair Follicle / Q000002:abnormalities* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C490267:HR protein, human; D014157:Transcription Factors