Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2.

Clefts of the lip with or without cleft palate (CL/P) are one of the most common birth defects, occurring in 1/700–1/1000 infants born alive. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. Recently, a couple of genes, PVR and PVRL2, mapping in the candidate region OFC3 on chromosome 19q13.31, have been investigated because of their homology to PVRL1, a gene previously shown to cause the Margarita Island CL/P-ectodermal dysplasia syndrome. In the present work, we investigated PVR and PVRL2 genes by family-based linkage disequilibrium analysis using a sample collected from the Italian population. In contrast to previous analyses on other populations, we could not find any statistically significant association between the markers alleles and non-syndromic clefting.European Journal of Human Genetics (2007) 15, 992–994; doi:10.1038/sj.ejhg.5201868; published online 30 May 2007 [ABSTRACT FROM AUTHOR]