TLDR New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
The study focused on five consanguineous Pakistani families suffering from Atrichia with papular lesions (APL), which is caused by mutations in the hairless gene (HR) located on chromosome 8p21.3. Linkage analysis confirmed the HR gene's involvement in all families, and sequencing identified a new homozygous nonsense variant in one family, as well as two known pathogenic variants in the remaining families. The research concluded that these mutations add to the known mutation spectrum causing APL and highlighted the need for detailed clinical outcome characterization of these HR gene variants to improve clinical care for affected individuals. The exact number of participants was not provided, but at least two affected individuals from each family were studied.
6 citations,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
17 citations,
May 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
14 citations,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
181 citations,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
30 citations,
January 2009 in “Nuclear Receptor Signaling” Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
19 citations,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
137 citations,
September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
5 citations,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
