A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

X-Linked Hypohidrotic Ectodermal Dysplasia (XL-HED; MIM305100) is characterized by hypodontia, misshaped teeth, hypo-hidrosis, sparse hair, peculiar facial features and occurs in less than 1 in every 100.000 individuals. XL-HED is caused by mutations in the Ectodysplasin-A (EDA) gene located at Xq12-q13 with more than 100 causative mutations reported to date. The identification of disease-causing mutations confirms the diagnosis, however, does not automatically imply a genotype–phenotype correlation. We identified an Italian family with XL-HED resulting from a novel mutation.