Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript
July 2010
in “
Experimental Dermatology
”
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.
