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

Madison R. Bishop, Kimberly K. Diaz Perez, Miranda Sun, Samantha Ho, Pankaj Chopra, Nandita Mukhopadhyay, Jacqueline B. Hetmanski, Margaret A. Taub, Lina M. Moreno-Uribe, Luz Consuelo Valencia-Ramirez, Claudia P. Restrepo Muñeton, George Wehby, Jacqueline T. Hecht, Frederic Deleyiannis, Seth M. Weinberg, Yah Huei Wu-Chou, Philip K. Chen, Harrison Brand, Michael P. Epstein, Ingo RuczinskiJeffrey C. Murray, Terri H. Beaty, Eleanor Feingold, Robert J. Lipinski, David J. Cutler, Mary L. Marazita, Elizabeth J. Leslie

研究成果: 雜誌貢獻文章同行評審

39 引文 斯高帕斯(Scopus)


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.

頁(從 - 到)124-136
期刊American Journal of Human Genetics
出版狀態已發佈 - 7月 2 2020

ASJC Scopus subject areas

  • 遺傳學
  • 遺傳學(臨床)


深入研究「Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios」主題。共同形成了獨特的指紋。