title: Detection of a novel missense mutations in atrichia with papular lesions.
abstract: BACKGROUND
  Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by papular lesions over the extensor areas of the body. Recently, mutations in the human hairless (HR) gene have been implicated in its pathogenesis. The identification of mutations in the HR gene is important for differentiating between APL and alopecia universalis (AU).
  
  
  OBJECTIVE
  We compared the HR genes of patients with presumed AU who showed minimal or no response to treatment with the HR genes of healthy controls.
  
  
  METHODS
  The subjects were 11 patients with presumed AU who had not responded to treatments. Fifty healthy people were included as controls for molecular analysis. To screen for mutations, polymerase chain reaction was performed.
  
  
  RESULTS
  DNA analysis identified a novel heterozygous G-to-A transition at nucleotide position 191 in exon 5. The mutation was not found in the controls, other AU patients, or any unaffected family members except for the patients' mother and maternal grandfather, who were heterozygous HR gene carriers.
  
  
  CONCLUSIONS
  Our study identifies a novel missense mutation in exon 5 of the HR gene in a Korean APL patient previously diagnosed as AU.
authors: Department of Dermatology, Busan Paik Hospital, College of Medicine, Inje University, Busan, Korea.
authors: Deborah
authors: D
authors: Lee
authors: Sang-Hyun
authors: SH
authors: Kim
authors: Ji-Sung
authors: JS
authors: Chun
authors: Myeong-Hoon
authors: MH
authors: Joo
authors: Ji-Yeon
authors: JY
authors: Kim
authors: Seon-Wook
authors: SW
authors: Hwang
authors: Hyo-Joon
authors: HJ
authors: Kang
authors: Sung-Wook
authors: SW
authors: Park
authors: Ho-Suk
authors: HS
authors: Sung