Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript

July 2010 in “ Experimental Dermatology ”

Yuval Ramot, Liran Horev, Irena Smolovich, Vered Molho‐Pessach, Abraham Zlotogorski

Marie Unna hereditary hypotrichosis HR gene hairless gene missense mutation hair growth mRNA levels MUHH

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.

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Research cited in this study

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Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

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Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript

Research cited in this study

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

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