A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

The study identified a missense mutation, R620Q, in the zinc-finger domain of the human hairless gene, linked to congenital atrichia in a large inbred family of Irish Travellers. This mutation, a G→A transition at nucleotide position 1859, was not found in a control group of 50 unrelated individuals, indicating its specificity to the affected family. The study involved nine family members, demonstrating autosomal recessive inheritance, with affected individuals showing complete hair loss and additional skin lesions. The mutation likely impaired DNA binding, disrupting normal hair-cycle events, and highlighted the hairless gene's role in maintaining the balance between cell proliferation, differentiation, and apoptosis in hair follicles.