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: Peter John, Muhammad Aslam, Muhammad Arshad Rafiq, Muhammad Amin-ud-din, Sayedul Haque, Wasim Ahmad
• Journal: Archives of dermatological research (Arch Dermatol Res) Vol. 297 Issue 5 Pg. 226-30 (Nov 2005) ISSN: 0340-3696 [Print] Germany
• PMID: 16211417 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• HR protein, human
• Transcription Factors

Topics

• Alopecia (genetics, pathology)
• Consanguinity
• Female
• Humans
• Male
• Mutation
• Skin Diseases, Genetic (genetics)
• Transcription Factors (genetics)