| Literature DB >> 32574564 |
Madison R Bishop1, Kimberly K Diaz Perez1, Miranda Sun2, Samantha Ho1, Pankaj Chopra1, Nandita Mukhopadhyay3, Jacqueline B Hetmanski4, Margaret A Taub5, Lina M Moreno-Uribe6, Luz Consuelo Valencia-Ramirez7, Claudia P Restrepo Muñeton7, George Wehby8, Jacqueline T Hecht9, Frederic Deleyiannis10, Seth M Weinberg11, Yah Huei Wu-Chou12, Philip K Chen13, Harrison Brand14, Michael P Epstein1, Ingo Ruczinski5, Jeffrey C Murray15, Terri H Beaty4, Eleanor Feingold16, Robert J Lipinski2, David J Cutler1, Mary L Marazita11, Elizabeth J Leslie17.
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.Entities:
Keywords: de novo mutations; orofacial clefts; trios; whole genome sequencing
Mesh：
Year: 2020 PMID： 32574564 PMCID： PMC7332647 DOI： 10.1016/j.ajhg.2020.05.018
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025