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

Madison R. BishopiD, Kimberly K. Diaz Perez, Miranda R. SuniD, Samantha HoiD, Pankaj ChopraiD, Nandita MukhopadhyayiD, Jacqueline B. HetmanskiiD, Margaret A. TaubiD, Lina M. Moreno‐UribeiD, Luz Consuelo Valencia‐Ramirez, Claudia P. Restrepo MuñetoniD, George L. WehbyiD, Jacqueline T. HechtiD, Frederic W.‐D. Deleyiannis, Seth Michael WeinbergiD, Yah‐Huei Wu‐Chou, Philip K. Chen, Harrison BrandiD, Michael P. EpsteiniD, Ingo RuczinskiiD, Jeffrey Clark MurrayiD, Terri H. BeatyiD, Eleanor FeingoldiD, Robert J. LipinskiiD, David J. CutleriD, , Elizabeth J. LeslieiD

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Abstract

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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