Whole Exome Sequencing Identifies Damaging Variants in Indonesians with Clefts

OBJECTIVESThe interaction between genomics, genetic and environmental factors have been implicated in non-syndromic orofacial cleft development. In the current study, we investigated the contributions of rare and novel genetic variants in known cleft genes using whole exome sequencing (WES) data of Indonesians with non-syndromic orofacial clefts. DESIGNWES was conducted on 6 individuals. Variants in their exons were called and annotated. These variants were filtered for novelty and rarity using MAF of 0 and 1%. SETTINGHospital in Indonesia. PATIENTS/PARTICIPANTSIndonesians with non-syndromic orofacial clefts. INTERVENTIONSDeleterious variants were prioritized. Pathogenic amino acid changes effect on protein structure and function were identified using HOPE. MAIN OUTCOME MEASURE(S)Rare and novel variants in known cleft genes were filtered and their deleteriousness were predicted using polyphen, SIFT and CADD. RESULTSWe identified rare (MAF