AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

A familial case of Ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome (AEC-OMIM 106260) caused by a I510T mutation of the TP63 gene is discussed. AEC is an autosomal dominant disorder also known as Hay-Wells syndrome, characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, and scalp infections. Heterozygous mutations of the TP63 gene, mapping to chromosome q 27e 3q27, have been demonstrated to be the major cause of AEC syndrome. Despite the structural homology with the tumor suppressor gene TP53, TP63 gene is rarely mutated in cancer, but it has a significant role in craniofacial and limb development and in skin differentiation. Mutations of the TP63 gene have been described in five different malformation syndromes characterized by ectodermal dysplasia, orofacial and limb anomalies in various association. A tentative genotype-phenotype correlation was first provided by the evidence of mutations in different, specific p 63 domains.