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

Identification of a novelframeshift mutation in theEDAR gene causing autosomaldominant hypohidroticectoder mal dysplasiaEditorThe ectodermal dysplasias (EDs) are a group of inherited disor-ders affecting ectodermal-derived tissues, including the hair,nails, teeth, skin and sweat glands.1,2Hypohidrotic ectodermaldysplasia (HED) represents one of the major types of ED andresults from mutations in the EDA (MIM *300451), EDAR(MIM *604095) EDARADD (MIM *606603) and TRAF6 (MIM*602355) genes. The inheritance of HED can be X-linked(XLHED; MIM#305100) or autosomal either dominant(MIM#129490) or recessive (MIM#305100).3,4No definitegenotype–phenotype correlations have been established to date.However, recently identified EDAR mutations demonstrate thatpathogenic variants result in variable phenotypes with mild-to-severe clinical manifestations.5We report a novel mutation in the EDAR gene in an Italianfamily with autosomal dominant HED that supports emergingevidence for a genoytype–phenotype correlation.5The clinical,genetic and functional studies were conducted according to theHelsinki declaration and written informed consent was obtainedfrom all participating family members; including consent topublish data and clinical images. Three members of the familywere available for detailed clinical investigation (V:5; IV:7; IV:5),and four underwent molecular genetic analysis (V:5; IV:7; IV:5;III:2)