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Congenital diaphragmatic hernias: from genes to mechanisms to therapies

Disease models & mechanisms, 2017-08, Vol.10 (8), p.955-970 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;2017. This work is licensed under http://creativecommons.org/licenses/by/3.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.028365 ;PMID: 28768736

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Title:
Congenital diaphragmatic hernias: from genes to mechanisms to therapies
Author: Kardon, Gabrielle ; Ackerman, Kate G ; McCulley, David J ; Shen, Yufeng ; Wynn, Julia ; Shang, Linshan ; Bogenschutz, Eric ; Sun, Xin ; Chung, Wendy K
Subjects: Abdomen ; Biologists ; Biology ; Congenital defects ; Congenital diaphragmatic hernia (CDH) ; Congenital diseases ; Congenital heart disease (CHD) ; Congestive heart failure ; Copy number ; Diaphragm ; Diaphragm (Anatomy) ; Fetuses ; Genetics ; Genomic analysis ; Heart ; Hernias ; Hypertension ; Hypoplasia ; Lungs ; Morbidity ; Mortality ; Mutation ; Patients ; Pulmonary hypertension ; Pulmonary hypoplasia ; Retinoic acid ; Review ; Signal transduction ; Structural birth defects ; Transcription factors
Is Part Of: Disease models & mechanisms, 2017-08, Vol.10 (8), p.955-970
Description: Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as , , and , and signaling pathway components, including members of the retinoic acid pathway. Mutations in these genes affect diaphragm development and can have pleiotropic effects on pulmonary and cardiac development. New therapies, including fetal endoscopic tracheal occlusion and prenatal transplacental fetal treatments, aim to normalize lung development and pulmonary vascular tone to prevent and treat lung hypoplasia and pulmonary hypertension, respectively. Studies of the association between particular genetic mutations and clinical outcomes should allow us to better understand the origin of this birth defect and to improve our ability to predict and identify patients most likely to benefit from specialized treatment strategies.
Publisher: England: The Company of Biologists Ltd
Language: English
Identifier: ISSN: 1754-8403
EISSN: 1754-8411
DOI: 10.1242/dmm.028365
PMID: 28768736
Source: PubMed Central
ProQuest Central
DOAJ Directory of Open Access Journals

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Congenital diaphragmatic hernias: from genes to mechanisms to therapies

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