Article
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

https://doi.org/10.1016/j.ajhg.2020.05.018Get rights and content
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Although de novo mutations (DNMs) are known to increase an individual’s risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 child-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to an individual’s OFC risk. Overall, we identified a significant excess of loss-of-function DNMs in genes highly expressed in craniofacial tissues, as well as genes associated with known autosomal dominant OFC syndromes. This analysis also revealed roles for zinc-finger homeobox domain and SOX2-interacting genes in OFC etiology.

Keywords

orofacial clefts
whole genome sequencing
de novo mutations
trios

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