A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

May 2012 in “ Journal of Investigative Dermatology ”

Atsushi Fujimoto, Muhammad Farooq, Hiroki Fujikawa, Asuka Inoue, Manabu Ohyama, Ritsuko Ehama, Jotaro Nakanishi, Motofumi Hagihara, Tokuro Iwabuchi, Junken Aoki, Masaaki Ito, Yutaka Shimomura

missense mutation keratin K71 KRT71 gene autosomal dominant woolly hair hypotrichosis keratin intermediate filament inner root sheath hair follicle development hereditary hair disorders non-syndromic woolly hair woolly hair hair follicle hair disorders

TLDR A specific gene mutation causes woolly hair and hair loss.

The study identified a missense mutation, c.422T>G (p.Phe141Cys), in the KRT71 gene as the cause of autosomal dominant woolly hair and hypotrichosis in a Japanese family. This mutation disrupted keratin intermediate filament formation, highlighting the role of IRS-specific keratins in hair follicle development. The mutation was not found in 200 healthy controls, indicating its pathogenic nature. The findings expanded the understanding of hereditary hair disorders, particularly non-syndromic forms of woolly hair, and emphasized the importance of the inner root sheath in hair follicle structure.

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