Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.
Ann Hum Genet
; 70(Pt 3): 410-3, 2006 May.
Article
in En
| MEDLINE
| ID: mdl-16674562
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cell Adhesion Molecules
/
Cleft Lip
/
Cleft Palate
/
Mutation
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Ann Hum Genet
Year:
2006
Document type:
Article
Affiliation country:
Italy