GENES — THE KEY CULPRIT IN OROFACIAL CLEFTING

Abstract

Cleft lip with or without  cleft palate is the most common facial birth defect and it is caused by a complex interaction between genetic and environmental factors. Although the gene identification process for orofacial clefting in humans is in the early stages, the pace is rapidly accelerating. Recently, several   genes have been identified that have a combined role in up to 20% of all clefts. Ongoing human genome-wide linkage studies have identified regions in the genome that likely contain genes that when mutated cause orofacial clefting, including a major gene on chromosome 9 that is positive in multiple racial groups. Currently, efforts are focused to identify which genes are mutated in these regions. The ultimate goal of these studies is to provide knowledge for more accurate risk counseling and the development of preventive therapies.