Mutational Spectrum of EDA, EDAR, EDARADD, and WNT10A Genes in the Largest Cohort of Russian Patients With Hypohidrotic Ectodermal Dysplasia

    February 2026 in “ Orphanet Journal of Rare Diseases ”
    Valeriia Kovalskaia, Tatiana Cherevatova, Elena Zinina … Oxana P. Ryzhkova
    Studysummary This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
    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 link.springer.com →
    Discuss this study in the Community →

    Research cited in this study 3

    1. WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation Nature Communications · 2017
    2. Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements Journal of Human Genetics · 2016
    3. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009