Kids First: Genomics of Orofacial Clefts in the Philippines

Orofacial clefts (OFCs) are the most common craniofacial structural birth defect in humans caused by incomplete formation of the upper lip and/or the palate. Over 4,000 children in the Philippines are born with an OFC every year, and the Filipino OFC birth prevalence rate of 1 in 500 live births is one of the highest in the world. Genome-wide association studies support a multifactorial etiology for OFCs, but common variants only account for up to ~25% of the heritable risk in any one population. Sequencing studies in diverse populations is essential to fully understand the genetic architecture of OFCs. The study goals of the Kids First project are to sequence a collection of case-parent trios from the Philippines, in order to identify de novo mutations and inherited rare variants, and understand the population differences in common variant signals in the Philippines versus other populations. Approximately 373 trios from the Philippines were selected for whole genome sequencing (WGS) as part of this Gabriella Miller Kids First project. ]]>
Inclusion Criteria:Probands with non-syndromic orofacial cleft lip with or without cleft palateDNA available from both parents ]]>
Orofacial clefts (OFCs) are genetically complex structural birth defects caused by genetic factors, environmental exposures, and the interactions of genetic and environmental factors. OFCs are the most common craniofacial anomalies in humans but affect populations worldwide with variable frequency. In order to understand the etiology of these common birth defects, the investigators involved in this collaboration (Emory University, University of Pittsburgh, and University of Iowa) have recruited large numbers of OFC families from many countries and gone through many years of collaborative studies. This Kids First project focuses on whole genome sequencing (WGS) in 373 case-parent trios from the Philippines, where the OFC prevalence is particularly high.]]>