Nectinopathies: An emerging group of ectodermal dysplasia syndromes

F. Brancati, E. Agolini, P. Fortugno

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)59-64
Number of pages6
JournalGiornale Italiano di Dermatologia e Venereologia
Volume148
Issue number1
Publication statusPublished - 2013

Keywords

  • Cleft lip
  • Cleft palate
  • Ectodermal dysplasia

ASJC Scopus subject areas

  • Dermatology

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