Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

We present what, to the best of our knowledge, is the first clinical and molecular genetic analysis of X-linked hypohidrotic ectodermal dysplasia from the Venezuelan population. We analysed two families exhibiting classic clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other.