TLDR New mutations in the hairless gene may cause hair loss and affect bone development.
The study examined two families with autosomal recessive papular atrichia, identifying novel mutations in the hairless (HR) gene. In a Mexican family, a homozygous 4 bp deletion in exon 7 caused a premature stop codon, while in a South Tyrolian family, a homozygous A→G transition in exon 14 resulted in an Asn970Ser amino acid change. The latter mutation was absent in 616 control individuals, indicating its potential role in the disease. The study underscored the genetic heterogeneity of papular atrichia and suggested the involvement of the hairless protein in hair development and ossification, as affected individuals in the South Tyrolian family also showed delayed bone age. Further research was recommended to explore the functional domains of the hairless protein and the effects of missense mutations.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
32 citations
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May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
15 citations
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April 2002 in “British Journal of Dermatology” Hairless gene not strongly linked to baldness.
