Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

The study investigated a rare, recessively inherited form of alopecia universalis in a family, identifying a genetic mutation linked to the condition. Researchers used homozygosity mapping to establish linkage on chromosome 8p12, with a significant logarithm of the odds score of 6.19. They discovered a missense mutation in the human homolog of the murine hairless gene, which encodes a zinc finger transcription factor protein expressed in the brain and skin. This finding suggested that mutations in the hairless gene could be responsible for this type of hereditary hair loss. The study involved 36 family members, providing a robust genetic analysis.