A Novel Missense Mutation (C622G) in the Zinc-Finger Domain of the Human Hairless Gene Associated with Congenital Atrichia with Papular Lesions

The study identified a novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene, associated with congenital atrichia with papular lesions, a rare form of hair loss. This mutation was found in a family of Polish descent and affects the third of four invariant cysteines in the zinc-finger domain, which is similar to the structure of zinc-fingers in the GATA family of transcription factors. The hairless gene, which encodes a transcription factor expressed in the brain and skin, plays a role in regulating apoptosis during the catagen phase of the hair cycle.