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

This study investigated the genetic mutations associated with hypohidrotic ectodermal dysplasia (HED) in 261 unrelated Russian families, totaling 455 patients. The research identified pathogenic or likely pathogenic variants in 183 probands (70.1%), with the majority of mutations found in the EDA gene (84.7%), followed by WNT10A (8.8%) and EDAR (6.5%). No pathogenic mutations were detected in EDARADD. The study also discovered 46 novel causative variants and noted that 28.8% of EDA variants are de novo. This research, the largest of its kind globally, enhances the understanding of the mutational spectrum of HED and will inform diagnostic approaches for affected individuals. Further research using whole-genome sequencing is suggested to uncover additional contributory genes.