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

Asian People / genetics Cleft Lip / genetics Cleft Palate / genetics Female Genetic Predisposition to Disease / genetics Genome-Wide Association Study / methods Humans Male Mutation / genetics Polymorphism, Single Nucleotide / genetics White People / genetics Whole Genome Sequencing / methods
de novo mutations orofacial clefts trios whole genome sequencing

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
02 07 2020
Historique:
received: 30 03 2020
accepted: 26 05 2020
pubmed: 24 6 2020
medline: 21 10 2020
entrez: 24 6 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.ajhg.2020.05.018 PMID: 32574564 PMC: PMC7332647
pubmed: 32574564
pii: S0002-9297(20)30165-8
doi: 10.1016/j.ajhg.2020.05.018
pmc: PMC7332647
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

124-136

Subventions

Organisme : NIDCR NIH HHS
ID : R01 DE011931
Pays : United States
Organisme : NICHD NIH HHS
ID : R03 HD099547
Pays : United States
Organisme : NHLBI NIH HHS
ID : U2C HL138346
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE016148
Pays : United States
Organisme : NIDCR NIH HHS
ID : R03 DE026469
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG003079
Pays : United States
Organisme : NIDCR NIH HHS
ID : R00 DE025060
Pays : United States
Organisme : NICHD NIH HHS
ID : U24 HD090743
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE027362
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE028342
Pays : United States
Organisme : NCBDD CDC HHS
ID : R01 DD000295
Pays : United States
Organisme : NIDCR NIH HHS
ID : R03 DE027103
Pays : United States
Organisme : NIDCR NIH HHS
ID : R03 DE027121
Pays : United States

Informations de copyright

Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Auteurs

Madison R Bishop (MR)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Kimberly K Diaz Perez (KK)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Miranda Sun (M)

Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA.

Samantha Ho (S)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Pankaj Chopra (P)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Nandita Mukhopadhyay (N)

Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA.

Jacqueline B Hetmanski (JB)

Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.

Margaret A Taub (MA)

Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.

Lina M Moreno-Uribe (LM)

Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA.

Luz Consuelo Valencia-Ramirez (LC)

Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia.

Claudia P Restrepo Muñeton (CP)

Fundación Clínica Noel, Carrera 50 # 63-131, Medellín, Colombia.

George Wehby (G)

Department of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA.

Jacqueline T Hecht (JT)

Department of Pediatrics, McGovern Medical School and School of Dentistry, UT Health at Houston, Houston, TX 77030, USA.

Frederic Deleyiannis (F)

UCHealth Plastic and Reconstructive Surgery, Colorado Springs, CO 80907, USA.

Seth M Weinberg (SM)

Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.

Yah Huei Wu-Chou (YH)

Department of Medical Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

Philip K Chen (PK)

Craniofacial Centre, Taipei Medical University Hospital and Taipei Medical University, Taipei, Taiwan.

Harrison Brand (H)

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

Michael P Epstein (MP)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Ingo Ruczinski (I)

Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.

Jeffrey C Murray (JC)

Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

Terri H Beaty (TH)

Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.

Eleanor Feingold (E)

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.

Robert J Lipinski (RJ)

Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin, Madison, WI 53706, USA.

David J Cutler (DJ)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Mary L Marazita (ML)

Department of Oral Biology, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15219, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15219, USA.

Elizabeth J Leslie (EJ)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.

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Classifications MeSH

questionsmedicales.fr › Personnes › Asiatiques › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations de la bouche › Bec-de-lièvre › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations de la bouche › Fente palatine › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Personnes › Blancs › Genome-wide Enrichment of De Novo Coding...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Genome-wide Enrichment of De Novo Coding...