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
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    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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