Nonsyndromic Cleft Lip and Palate: Four Chromosomal Regions of Interest

Nonsyndromic cleft lip with or without cleft palate (NSCLP), a common birth defect affecting 1/700 live births and 4,000 newborns/year in the United States, is associated with short and long-term morbidity. As such, it has significant impact on the health care system. NSCLP is a complex disorder that results from the interaction of genetic and environmental factors that are slowly being defined. Genomic scans have suggested a number of regions that may contain NSCLP loci. In this study, we have evaluated regions identified by a previously published genomic scan of affected sib-pairs and have found evidence of association in sixty-five multiplex families for eight chromosomal regions. Four of these regions, 2q37, 11p12-14, 12q13, and 16p13, have also been identified in second genomic scan of multiplex families from China. One region, defined by D11S1392, gave evidence suggesting the presence of an NSCLP locus in all three studies. Altogether, these results suggest chromosomal regions that should be targeted in order to identify NSCLP loci.