Nonsyndromic cleft lip with or without cleft palate (CL/P) affects approximately 
1 in 1,000 births. Genetic studies have provided evidence for the role of 
several genes and candidate loci in clefting; however, conflicting results have 
frequently been obtained and much have to be done to unravel the complex 
genetics of CL/P. In the present investigation we have focused on the candidate 
region in 6p23, a region that have been found linked to CL/P in several 
investigations, in the attempt to find out the susceptibility gene provisionally 
named OFC1. Gene expression experiments in mice embryo of positional candidate 
genes revealed that JARID2 was highly and specifically expressed in epithelial 
cells in merging palatal shelves. A family-based linkage disequilibrium study 
confirmed the pivotal role of JARID2 in orofacial development and strongly 
supports a role for this gene in CL/P etiology (multiallelic haplotype test P=6 
x 10(-5)). Understanding the molecular role of JARID2 within facial development 
may offer additional information to further unravel the complex genetics of 
CL/P.