title: Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.
abstract: Atrichia with Papular Lesions (APL) is a rare autosomal recessive disorder characterized by complete hair loss that begins shortly after birth with the development of papular lesions on various regions of the body. Since the establishment of hairless (HR) gene mutations as the cause of this disorder, several patients previously assumed to suffer from alopecia universalis have been subsequently diagnosed with APL. In this study we have identified a novel splicing mutation, IVS8+2T-->G, in the hairless gene. This mutation most likely abolishes normal splicing of exon 8 and potentially leads to out-of-frame skipping of this exon and a downstream premature termination codon (PTC). Our findings contribute to the growing body of HR mutations implicated in APL and provide further evidence for the differentiation of APL from alopecia universalis.
authors.affiliation: Istituto Dermopatico Dell'Immacolata, Rome, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
authors.forename: Maureen
authors.initials: M
authors.lastname: Massé
authors.forename: Amalia
authors.initials: A
authors.lastname: Martinez-Mir
authors.forename: HaMut
authors.initials: H
authors.lastname: Lam
authors.forename: Cristina
authors.initials: C
authors.lastname: Pedicelli
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000328:Adult; D000505:Alopecia / Q000150:complications / Q000235:genetics*; D003937:Diagnosis, Differential; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017444:Skin Diseases, Papulosquamous / Q000150:complications / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C490267:HR protein, human; D022821:RNA Splice Sites; D014157:Transcription Factors