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, O A Shagina, E. О. Vorontsova, Galina Matyushchenko, Nina Demina, Marina Petukhova, Т. В. Маркова, Daria M. Guseva, В. А. Галкина, И. В. Анисимова, A. V. Stepanova, Alena Chuhrova, Margarita Sharova, Fatima Bostanova, Anahit E. Voskanyan, Aleksander V. Polyakov, Oxana P. Ryzhkova

hypohidrotic ectodermal dysplasia EDA gene WNT10A gene EDAR gene EDARADD gene genetic mutations pathogenic variants de novo mutations whole-genome sequencing

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.

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Research cited in this study

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research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation

96 citations , June 2017 in “Nature Communications”

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

197 citations , June 2009 in “American journal of human genetics”

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.