Apr 29, 2020

Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

BioRxiv : the Preprint Server for Biology
M. BishopElizabeth Leslie


While de novo mutations (DNMs) are known to increase 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 case-parent trios of European, Colombian, and Taiwanese ancestry was performed to determine the contributions of coding DNMs to 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.

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Mentioned in this Paper

Metabolic Process, Cellular
Flow Cytometry
Transcription, Genetic
Pseudomonas putida
Cell Division
Labor (Childbirth)
Catabolic Process

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