A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

    January 2013 in “ Human Mutation ”
    Muhammad Farooq, Mazen Kurban, Atsushi Fujimoto … Yutaka Shimomura
    Studysummary This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
    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
    Read the full study on onlinelibrary.wiley.com →
    Discuss this study in the Community →

    Research cited in this study 15

    1. Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012
    2. The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2010
    3. Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation European Journal of Dermatology · 2010
    4. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2009
    5. Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation Differentiation · 2009
    6. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    7. Evidence That the Satin Hair Mutant Gene Foxq1 Is Among Multiple and Functionally Diverse Regulatory Targets for Hoxc13 During Hair Follicle Differentiation Journal of biological chemistry/˜The œJournal of biological chemistry · 2006
    8. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
    9. Krtap16: Characterization of a New Hair Keratin-Associated Protein Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13 Journal of Biological Chemistry · 2004
    10. Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed British Journal of Dermatology · 2004
    11. HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression Journal of Biological Chemistry · 2002
    12. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    13. Overexpression of Hoxc13 in Differentiating Keratinocytes Results in Downregulation of a Novel Hair Keratin Gene Cluster and Alopecia Development · 2001
    14. The Catalog of Human Hair Keratins Journal of biological chemistry/˜The œJournal of biological chemistry · 1999
    15. Hoxc13 Mutant Mice Lack External Hair Genes & Development · 1998