Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene

Background: Androgenetic alopecia is considered to be genetically determine d. Recently, a rare autosomal recessive form of hereditary alopecia, termed atrichia with papular lesions (APL), nas found to result from mutations in the human hairless gene. Objective: Our aim was to assess the pattern of androgenetic alopecia in he terozygous 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 Nas obtained from each subject and analyzed for the presence of a mutation in the human hairless gene know n to affect this family. The age at onset and extent of baldness were compa red 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 sub jects. Conclusion: The present study reports the first attempt to characterize the phenotype of heterozygous carriers of a mutation in the human hairless gen e. II indicates that: the presence of a deleterious mutation in one allele of the hairless gene does not affect the pattern of androgenetic hair loss.