A Nonsense Variant In KRT31 Is Associated With Autosomal-Dominant Monilethrix

    July 2024 in “ British journal of dermatology/British journal of dermatology, Supplement ”
    Xing Xiong, Nicole Cesarato, Yasmina Gossmann, Maria Wehner, Sheetal Kumar, Holger Thiele, Stephanie Demuth, Vinzenz Oji, Matthias Geyer, Henning Hamm, F. Buket Basmanav, Regina C. Betz
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    TLDR A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
    This study identifies a nonsense variant in the KRT31 gene as a cause of autosomal-dominant monilethrix, a rare hereditary hair disorder. Nine affected individuals from four unrelated families were examined, and exome sequencing revealed the c.1081G>T; p.(Glu361*) variant in KRT31. This variant results in the loss of critical protein domains, leading to altered protein expression and cytoskeletal localization. The findings underscore the role of hair keratin proteins in hair biology and enhance the molecular diagnostic capabilities for rare hair and nail disorders.
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