Journal article
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
American journal of human genetics, Vol.107(1), pp.124-136
07/02/2020
DOI: 10.1016/j.ajhg.2020.05.018
PMCID: PMC7332647
PMID: 32574564
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.
Details
- Title: Subtitle
- Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
- Creators
- Madison R. Bishop - Emory UniversityKimberly K Diaz Perez - Emory University School of MedicineMiranda Sun - University of Wisconsin–MadisonSamantha Ho - Emory UniversityPankaj Chopra - Emory UniversityNandita Mukhopadhyay - University of PittsburghJacqueline B. Hetmanski - Johns Hopkins UniversityMargaret A. Taub - Johns Hopkins UniversityLina M. Moreno-Uribe - University of IowaLuz Consuelo Valencia-Ramirez - Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, ColombiaClaudia P. Restrepo Muneton - Fdn Clin Noel, Carrera 50 63-131, Medellin, ColombiaGeorge Wehby - University of IowaJacqueline T. Hecht - The University of Texas Health Science Center at HoustonFrederic Deleyiannis - UCHlth Plast & Reconstruct Surg, Colorado Springs, CO 80907 USASeth M. Weinberg - University of PittsburghYah Huei Wu-Chou - Chang Gung Memorial HospitalPhilip K. Chen - Taipei Medical University HospitalHarrison Brand - Massachusetts General HospitalMichael P. Epstein - Emory UniversityIngo Ruczinski - Johns Hopkins UniversityJeffrey C. Murray - University of IowaTerri H. Beaty - Johns Hopkins UniversityEleanor Feingold - University of PittsburghRobert J. Lipinski - University of Wisconsin–MadisonDavid J. Cutler - Emory UniversityMary L. Marazita - University of PittsburghElizabeth J. Leslie - Emory University
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.107(1), pp.124-136
- DOI
- 10.1016/j.ajhg.2020.05.018
- PMID
- 32574564
- PMCID
- PMC7332647
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Publisher
- Elsevier
- Number of pages
- 13
- Grant note
- U2CHL138346 / NIH Common Fund; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA Common Fund of the Office of the Director of the National Institutes of Health (NIH); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA R01-DE016148; R03-DE026469; R03-DE027193; R00-DE025060; R01-DE011931; U01-DD000295; R03-DE027121 / NIH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA
- Language
- English
- Date published
- 07/02/2020
- Academic Unit
- Preventive and Community Dentistry; Orthodontics; Anatomy and Cell Biology; Health Management and Policy; Stead Family Department of Pediatrics; Epidemiology; Economics; Pediatric Dentistry; Craniofacial Anomalies Research Center; Public Policy Center (Archive); Dental Research
- Record Identifier
- 9984367652802771
Metrics
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