Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions

M. Indelman, R. Bergman, G. G. Lestringant, G. Peer, Eli Sprecher*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Congenital atrichias represent a complex and heterogeneous group of genodermatoses, which have been shown in several consanguineous families to result from homozygous mutations in the hairless gene (HR). Objectives: To identify the molecular basis of congenital atrichia in a non-consanguineous family. Methods Genetic analysis was carried out in a two-generation family with two children with congenital atrichia and one healthy child. Results: We established a diagnosis of atrichia with papular lesions based on clinical and histopathological data. We identified a heterozygous 11-bp deletion (189-199del) in the two affected children and their mother. In addition, the two affected children and their father were shown to carry a non sense mutation (Q478X), which has previously been described in a Pakistani family. Haplotype analysis revealed that mutation Q478X occurred independently in the two families. Conclusions: We have identified the first case of compound heterozygosity for mutations in HR as well as the first instance of a recurrent mutation in this gene. These data further expand our understanding of the molecular pathomechanisms underlying congenital atrichias.

Original languageEnglish
Pages (from-to)553-557
Number of pages5
JournalBritish Journal of Dermatology
Volume148
Issue number3
DOIs
StatePublished - 1 Mar 2003
Externally publishedYes

Keywords

  • Alopecia
  • Atrichia
  • Genetics
  • Hair
  • Hairless

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