title: Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions.
abstract: Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universalis. The establishment of the diagnostic criteria for APL has triggered the identification of a large number of APL patients among those suspected to suffer from alopecia universalis. This advancement has resulted in the discovery of an increasing number of hairless mutations in both consanguineous and nonconsanguineous APL families. Here, we report the identification of a homozygous mutation, 3434delC, in an APL patient of Arab-Palestinian descent. The proband is a 23-year-old female with generalized scalp and body alopecia. To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene. Sequencing of all exons of the hairless gene revealed a homozygous frameshift mutation, 3434delC, in exon 18. Interestingly, the same mutation was previously identified in an Arab-Israeli family. Our data suggest that the 3434delC mutation most likely represents a founder mutation in this geographical region.
authors.affiliation: Department of Dermatology, Columbia University, New York, USA.
authors.forename: M
authors.initials: M
authors.lastname: Massé
authors.forename: A
authors.initials: A
authors.lastname: Martinez-Mir
authors.forename: H
authors.initials: H
authors.lastname: Lam
authors.forename: M T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics*; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C490267:HR protein, human; D014157:Transcription Factors