A Nonsense Variant In KRT31 Is Associated With Autosomal-Dominant Monilethrix
Studysummary This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
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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.
