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 condition is characterized by a complete absence of body hair shortly after birth and is inherited in a recessive manner. The mutation was found in a family of Polish descent and affects the zinc-finger domain, which is similar to the structure found in GATA family transcription factors. The hairless gene is thought to encode a transcription factor with expression in the brain and skin, playing a role in regulating apoptosis during the hair cycle's catagen phase.