A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family

    October 2000 in “ British Journal of Dermatology ”
    Sven Cichon, Roland Kruse, Axel M. Hillmer, Guido Kukuk, M. Anker, Klaus Altland, Michael Knapp, Peter Propping, Markus M. Nöthen
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    TLDR A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
    In 2000, researchers studied a large German family with hereditary hypotrichosis of the Marie Unna type (HMU) to identify its genetic basis. They conducted linkage analysis on chromosomes 8, 12, and 17 using microsatellite markers and determined that the HMU locus is on chromosome 8p21, specifically between markers D8S1145 and D8S1771. Despite the proximity to the hairless gene (HR), no pathogenic mutations were found in HR in an affected family member. This led to the conclusion that a different gene within the 8p21 region is responsible for HMU. The study included 59 family members and supported the existence of a separate hair growth regulatory gene on chromosome 8p21.
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