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

Eli Sprecher, Adel Shalata, Kamal Dabhah, Boris Futerman, Shai Lin, Raymonde Szargel, Reuven Bergman, Rachel Friedman-Birnbaum, Nadine Cohen*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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. Conclusion: 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.

Original languageEnglish
Pages (from-to)978-982
Number of pages5
JournalJournal of the American Academy of Dermatology
Volume42
Issue number6
DOIs
StatePublished - Jun 2000
Externally publishedYes

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