Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene

August 2003 in “ Clinical and Experimental Dermatology ”

M. Paradisi, Gary S. Chuang, C. Angelo, Cristina Pedicelli, Amalia Martı́nez-Mir, Angela M. Christiano

TLDR A new genetic mutation in the hairless gene causes a rare hair loss disorder.

Atrichia with papular lesions (APL) was identified as a rare autosomal recessive disorder characterized by complete and irreversible hair loss shortly after birth, along with the development of papular lesions of keratin-filled follicular cysts. This study reported a novel missense mutation, E583V, in the hairless gene in an Italian family affected by APL. The mutation was located between the LXXLL motif in exon 5 and the zinc-finger motif in exon 6, regions that were highly conserved across several species. This finding contributed to the understanding of the critical role of these domains in the function of the hairless protein and highlighted the occurrence of APL in small, non-consanguineous families globally.

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research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

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A specific gene mutation causes congenital hair loss.

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research Alopecia Universalis Associated with a Mutation in the Human hairless Gene

412 citations , January 1998 in “Science”

The study investigated a kindred with a rare, recessively inherited type of alopecia universalis to identify the genetic basis of this condition. Through homozygosity mapping, researchers established linkage in a 6-centimorgan interval on chromosome 8p12, with a significant logarithm of the odds score of 6.19. They identified a missense mutation in the human homolog of the murine hairless gene within this interval. The human hairless gene encodes a putative single zinc finger transcription factor protein, which is expressed in the brain and skin, suggesting its role in the development of alopecia universalis.