TLDR A new mutation in the HR gene causes hair loss in a specific family.
The study discovered a new heterozygous missense mutation, c.74C > T, in the HR gene of a Jewish Ashkenazi family affected by Marie Unna hereditary hypotrichosis (MUHH), which changes an amino acid from proline to leucine (p.P25L). This mutation was not found in 100 ethnically-matched controls, suggesting its role in the disorder. Functional tests showed that the mutation increases the translation of the HR gene's main open reading frame without altering mRNA levels, supporting the importance of HR gene translation regulation for normal hair growth. The mutation was linked to the hair loss condition as it was absent in unaffected family members.
181 citations,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
126 citations,
October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
6 citations,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
1 citations,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
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.
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.
7 citations,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
