First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

Abstract Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic dysplasia (XLHED) the most common form disease. XLHED characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features classic HED become obvious during childhood. Identification hemizygous EDA pathogenic variant in an affected male confirms diagnosis. Case presentation We report on newborn with main clinical characteristics including hypodontia hypohidrosis. Gene panel sequencing identified new missense uncertain significance (VUS) c.1142G > C (p.Gly381Ala) gene, located X chromosome inherited from healthy mother. Conclusion Despite potential functional impact VUS remains uncharacterized, our goal to evaluate consequences gene. Even if proband’s phenotype characteristic for HED, further reports patients same genomic are needed consider this novel as responsible development HED.