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 developm ent, characterized by complete loss of hair shortly after birth. Evidence o f linkage to chromosome 8p12 has been established, implicating the human ho molog of the mouse hairless (hr) gene as a candidate gene. We have previous ly 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.