Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

The ectodermal dysplasias (EDs) are a group of inherited disorders affecting ectodermal-derived tissues, including the hair, nails, teeth, skin and sweat glands. No definite genotype–phenotype correlations have been established to date.
However, recently identified EDAR mutations demonstrate that pathogenic variants result in variable phenotypes with mild-to severe clinical manifestations. We report a novel mutation in the EDAR gene in an Italian family with autosomal dominant HED that supports emerging evidence for a genoytype–phenotype correlation. we have identified a novel frameshift mutation in an Italian family with autosomal dominant HED resulting in a mild clinical phenotype. The mutation is predicted to result in protein truncation and supports the concept that PTC-causing mutations in exon 12 of the EDAR gene have a dominant negative effect, and that dominant EDAR mutations result in a less severe phenotype than recessive EDAR mutations.