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Study of the PVRL1 Gene in Italian Nonsyndromic Cleft Lip Patients with or without Cleft Palate
- Source :
- Annals of Human Genetics. 70:410-413
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- Summary 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.
Details
- ISSN :
- 14691809 and 00034800
- Volume :
- 70
- Database :
- OpenAIRE
- Journal :
- Annals of Human Genetics
- Accession number :
- edsair.doi...........96079dead9f33c16318a0d4f0e822cd4