Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

September 2010 in “ American Journal of Medical Genetics - Part A ”

Ayşe Tülin Mansur, Nursel Elçioğlu, Silke Redler, Zehra Aşiran Serdar, Şule Çetınel, Regina C. Betz, Nurten Akarsu

Marie Unna hereditary hypotrichosis MUHH U2HR mutation HR gene hair shaft structure hair cycle alterations hair follicles HR protein hormonal changes

TLDR A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.

The document detailed a study on a Turkish family with eight members diagnosed with Marie Unna hereditary hypotrichosis (MUHH), a condition marked by sparse hair, which worsens around puberty. The study confirmed a c.2T > C mutation in the U2HR gene, an area previously identified as a mutation hot spot, in all affected individuals. This mutation is in the 5'-untranslated region of the HR gene and has been found in other affected families worldwide. Clinical observations showed significant variation among individuals, with eyebrow loss being a key diagnostic feature. The study suggested that MUHH hair loss may result from changes in hair shaft structure, hair cycle alterations, and a decrease in functioning hair follicles, with the HR protein playing a crucial role in hair follicle cycling and hormonal changes possibly influencing the condition's progression.

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Research cited in this study

2 / 2 results

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

199 citations, April 2010 in “Nature”

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

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

181 citations, January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

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Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

Research cited in this study

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

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