title: Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.
abstract: Atrichia with papular lesions (APL) is a rare autosomal recessive form of total alopecia, characterized by hair loss soon after birth and the development of papular lesions of keratin-filled cysts over extensive areas of the body. Mutations in the hairless (hr) gene, a putative single zinc finger transcription factor, have been implicated in the pathogenesis of this disorder. In the present study, we describe two novel deletion mutations in exons 2 and 8 of the human hairless gene leading to frameshift and downstream premature termination codons in two consanguineous Pakistani families affected with atrichia.
authors.affiliation: Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Peter
authors.initials: P
authors.lastname: John
authors.forename: Muhammad
authors.initials: M
authors.lastname: Aslam
authors.forename: Muhammad Arshad
authors.initials: MA
authors.lastname: Rafiq
authors.forename: Muhammad
authors.initials: M
authors.lastname: Amin-ud-din
authors.forename: Sayedul
authors.initials: S
authors.lastname: Haque
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D012873:Skin Diseases, Genetic / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C490267:HR protein, human; D014157:Transcription Factors