Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex genetic trait and little is known about its aetiology. Recent investigations on rare clefting syndromes provided interesting clues about genes involved in face development. The PVRL1 gene encodes nectin1, a cell-to-cell adhesion molecule. Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. In the present study, we screened 143 Italian CL/P patients for mutations in PVRL1. Three rare sequence variants in exon 3 that create amino-acid changes were detected in a total of 7 patients. Two of these mutations were not found in a panel of 292 unaffected controls, while the third was found in two controls. This study describes new mutations that may represent genetic risk factors for CL/P. Even though a study to look at the effects of the mutations on nectin1 function was not feasible, supporting evidence was reported, thus confirming the involvement of PVRL1 in the aetiology of non-syndromic CL/P malformation.

• Authors: L Scapoli, A Palmieri, M Martinelli, C Vaccari, J Marchesini, F Pezzetti, U Baciliero, E Padula, P Carinci, F Carinci
• Journal: Annals of human genetics (Ann Hum Genet) Vol. 70 Issue Pt 3 Pg. 410-3 (May 2006) ISSN: 0003-4800 [Print] England
• PMID: 16674562 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cell Adhesion Molecules
• NECTIN1 protein, human
• Nectins

Topics

• Cell Adhesion Molecules (genetics)
• Cleft Lip (complications, ethnology, genetics)
• Cleft Palate (complications, ethnology, genetics)
• DNA Mutational Analysis
• Genetic Testing
• Humans
• Italy (ethnology)
• Mutation
• Nectins