Loose Anagen Hair Associated With Woolly Hair Caused By A Heterozygous, Intronic KRT71 Variant

    April 2025 in “ Genes ”
    Elizabeth Phillippi, Marcelo Maia Caixeta de Melo, Kelly N. Messingham, Hatem El‐Shanti
    Studysummary This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 14

    1. Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    2. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021
    3. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020
    4. A Second KRT71 Allele in Curly Coated Dogs Animal Genetics · 2018
    5. Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases Pediatric Dermatology · 2016
    6. A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats Scientific Reports · 2013
    7. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    8. Abnormal Inner Root Sheath of the Hair Follicle in the Loose Anagen Hair Syndrome: An Ultrastructural Study Journal of the American Academy of Dermatology · 2010
    9. The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71 Mammalian genome · 2010
    10. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    11. Practical Guidelines for Evaluation of Loose Anagen Hair Syndrome Archives of Dermatology · 2009
    12. A Novel Epithelial Keratin, hK6irs1, Is Expressed Differentially in All Layers of the Inner Root Sheath, Including Specialized Huxley Cells of the Human Hair Follicle Journal of Investigative Dermatology · 2002
    13. Is Loose Anagen Hair Syndrome a Keratin Disorder? Archives of Dermatology · 2002
    14. Loose Anagen Hair of Childhood: The Phenomenon of Easily Pluckable Hair Journal of The American Academy of Dermatology · 1989