title: Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
abstract: Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital disorders caused by recessive mutations in the PVRL1 and PVRL4 genes, respectively. These genes encode nectins 1 and 4, an emerging class of molecules acting in cooperation with cadherins to form cell-cell adhesion especially at adherens junctions. Their role in skin, hair and teeth biology and in the fine-tuning morphogenesis of craniofacial (lip/palate) and limbs is yet to be outlined prompting future research. We propose refer to these entities (nectin 1-ED and nectin 4-ED) as "nectinopathies", which are likely to be underestimated/underdiagnosed ED syndomes.
authors: Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University of Chieti-Pescara, Chieti, Italy. f.brancati@css-mendel.it
authors: F
authors: F
authors: Brancati
authors: E
authors: E
authors: Agolini
authors: P
authors: P
authors: Fortugno
mesh_terms: D015815:Cell Adhesion Molecules / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics; D006801:Humans; D009154:Mutation; D000075983:Nectins
chemical_list: D015815:Cell Adhesion Molecules; C000619010:NECTIN1 protein, human; D000075983:Nectins