Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 32574564.
- Also identified by DOI 10.1016/j.ajhg.2020.05.018 and PMC identifier 7332647.
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Abstract
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.
Medical subject headings
- Cleft Lip
- Cleft Palate
- Genetic Predisposition to Disease
- Mutation