Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.
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.
John
Peter
P
Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Aslam
Muhammad
M
Rafiq
Muhammad Arshad
MA
Amin-ud-din
Muhammad
M
Haque
Sayedul
S
Ahmad
Wasim
W
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*
C490267:HR protein, human; D014157:Transcription Factors