De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.

Humans Mutation Tretinoin Craniosynostoses / genetics Gene Expression Regulation Chromatin Genetic Predisposition to Disease
RARA chromatin modifiers cranial neural crest craniofacial syndromes de novo mutation neurodevelopmental disorders retinoic acid signaling syndromic craniosynostosis

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:
04 05 2023
Historique:
received: 03 10 2022
accepted: 24 03 2023
medline: 8 5 2023
pubmed: 23 4 2023
entrez: 22 04 2023
Statut: ppublish

Résumé

Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian forms of syndromic CS are well described, but a genetic etiology remains elusive in a substantial fraction of probands. Analysis of exome sequence data from 526 proband-parent trios with syndromic CS identified a marked excess (observed 98, expected 33, p = 4.83 × 10

Identifiants

DOI: 10.1016/j.ajhg.2023.03.017 PMID: 37086723 PMC: PMC10183468
pubmed: 37086723
pii: S0002-9297(23)00101-5
doi: 10.1016/j.ajhg.2023.03.017
pmc: PMC10183468
pii:
doi:

Substances chimiques

Tretinoin 5688UTC01R
Chromatin 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

846-862

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom

Informations de copyright

Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests S.M., M.M., M.S., and P.K. are employees of GeneDx.

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Auteurs

Andrew T Timberlake (AT)

Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.

Stephen McGee (S)

GeneDx, Gaithersburg, MD, USA.

Garrett Allington (G)

Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.

Emre Kiziltug (E)

Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.

Erin M Wolfe (EM)

Division of Plastic and Reconstructive Surgery, University of Miami Hospital, Miami, FL, USA.

Amy L Stiegler (AL)

Department of Pharmacology, Yale University, New Haven, CT, USA.

Titus J Boggon (TJ)

Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.

May Sanyoura (M)

GeneDx, Gaithersburg, MD, USA.

Michelle Morrow (M)

GeneDx, Gaithersburg, MD, USA.

Tara L Wenger (TL)

Division of Genetic Medicine, University of Washington, Seattle, WA, USA.

Erica M Fernandes (EM)

Nemours Children's Health, Wilmington, DE, USA.

Oana Caluseriu (O)

Department of Medical Genetics, University of Alberta, AB, Canada.

John A Persing (JA)

Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, CT, USA.

Sheng Chih Jin (SC)

Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.

Richard P Lifton (RP)

Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA. Electronic address: rickl@rockefeller.edu.

Kristopher T Kahle (KT)

Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. Electronic address: kahle.kristopher@mgh.harvard.edu.

Paul Kruszka (P)

GeneDx, Gaithersburg, MD, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › De novo variants implicate chromatin...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › De novo variants implicate chromatin...
questionsmedicales.fr › Facteurs biologiques › Pigments biologiques › Caroténoïdes › Rétinoïdes › Trétinoïne › De novo variants implicate chromatin...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Synostose › Craniosynostoses › De novo variants implicate chromatin...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › De novo variants implicate chromatin...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Structures de chromosome › Chromatine › De novo variants implicate chromatin...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › De novo variants implicate chromatin...