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 language | English |
---|---|
Pages (from-to) | 59-64 |
Number of pages | 6 |
Journal | Giornale Italiano di Dermatologia e Venereologia |
Volume | 148 |
Issue number | 1 |
Publication status | Published - 2013 |
Keywords
- Cleft lip
- Cleft palate
- Ectodermal dysplasia
ASJC Scopus subject areas
- Dermatology