A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies

    August 2022 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Rubab Raza, Gagan Chhabra, Muhammad Bilal … Nihal Ahmad
    Studysummary This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
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    Research cited in this study 9

    1. An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses Scientific Reports · 2018
    2. Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles Journal of Investigative Dermatology · 2016
    3. Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly PLoS ONE · 2015
    4. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    5. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    6. Keratin Gene Mutations in Disorders of Human Skin and Its Appendages Archives of Biochemistry and Biophysics · 2010
    7. Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament Genomics · 2007
    8. Three-Dimensional Modelling of Interchain Sequence Similarities and Differences in the Coiled-Coil Segments of Keratin Intermediate Filament Heterodimers Highlight Features Important in Assembly Journal of Structural Biology · 2007
    9. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), And K28 (K25irs4) Represent The Type I Inner Root Sheath Keratins Of The Human Hair Follicle Journal of Investigative Dermatology · 2006