Genetics of Orofacial Cleft Birth Defects

Abstract
Orofacial cleft birth defects (OFCs) are the most common facial birth defects and among the most common of all birth defects. OFCs can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. Notably, many genes that contribute to the etiology of these disorders, both syndromic and nonsyndromic, have now been identified after decades of research using multiple genetic approaches. The pace of gene identification has significantly increased recently due to advances in sequencing and genotyping technologies. Multiple genome-wide association studies of nonsyndromic OFCs have identified genomic regions that were followed by successful targeted sequencing and functional studies. In addition, other genomic techniques, primarily whole-exome sequencing, have also identified the major genes for many syndromic forms of OFC. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies.

Source: Current Genetic Medicine Reports - July 3, 2015 Category: Genetics & Stem Cells Source Type: research