Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene.
Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified missense mutations in families with congenital atrichia. Here, we report the first deletion mutation (2147del C) in exon 9 of the human hairless gene leading to a frameshift and downstream premature termination codon in five Palestinian families of Arab origin.
Zlotogorski
A
A
Department of Dermatology, Hadassah University Hospital, Jerusalem, Israel.
Ahmad
W
W
Christiano
A M
AM
D000505:Alopecia / Q000235:genetics*; D000818:Animals; D018912:Arabs; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D014157:Transcription Factors
C490267:HR protein, human; D011506:Proteins; D014157:Transcription Factors; C088661:hr protein, mouse