title: Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.
abstract: BACKGROUND
  Androgenetic alopecia is considered to be genetically determined. Recently, a rare autosomal recessive form of hereditary alopecia, termed atrichia with papular lesions (APL), was found to result from mutations in the human hairless gene.
  
  
  OBJECTIVE
  Our aim was to assess the pattern of androgenetic alopecia in heterozygous carriers of a deleterious mutation in the human hairless gene.
  
  
  METHODS
  Healthy male second-degree relatives (n = 31) of patients affected with APL and belonging to a large consanguineous kindred were interviewed and given a Hamilton score of baldness. DNA was obtained from each subject and analyzed for the presence of a mutation in the human hairless gene known to affect this family. The age at onset and extent of baldness were compared in healthy homozygotes and heterozygous carriers of the mutation.
  
  
  RESULTS
  Statistical analysis of the results revealed no differences in age at onset and extent of androgenetic alopecia between the two groups of subjects.
  
  
  CONCLUSIONS
  The present study reports the first attempt to characterize the phenotype of heterozygous carriers of a mutation in the human hairless gene. It indicates that the presence of a deleterious mutation in one allele of the hairless gene does not affect the pattern of androgenetic hair loss.
authors.affiliation: Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Sprecher
authors.forename: A
authors.initials: A
authors.lastname: Shalata
authors.forename: K
authors.initials: K
authors.lastname: Dabhah
authors.forename: B
authors.initials: B
authors.lastname: Futerman
authors.forename: S
authors.initials: S
authors.lastname: Lin
authors.forename: R
authors.initials: R
authors.lastname: Szargel
authors.forename: R
authors.initials: R
authors.lastname: Bergman
authors.forename: R
authors.initials: R
authors.lastname: Friedman-Birnbaum
authors.forename: N
authors.initials: N
authors.lastname: Cohen
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000505:Alopecia / Q000235:genetics*; D000728:Androgens / Q000494:pharmacology*; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
chemical_list: D000728:Androgens