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Henderson, D.J.* ; Alqahtani, A.* ; Chaudhry, B.* ; Cook, A.M.* ; Eley, L.* ; Houyel, L.* ; Hughes, M.* ; Keavney, B.* ; de la Pompa, J.L.* ; Sled, J.* ; Spielmann, N. ; Teboul, L.* ; Zaffran, S.* ; Mill, P.* ; Liu, K.J.*

Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping.

Dis. Model. Mech. 17:dmm050913 (2024)

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	Open Access Gold

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Congenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in patients with CHDs, few gene variants have been proven as causal. The complexity of the genetic architecture underlying human CHDs likely contributes to this poor genetic discovery rate. However, several other factors are likely to contribute. For example, the level of patient phenotyping required for clinical care may be insufficient for research studies focused on mechanistic discovery. Although several hundred mouse gene knockouts have been described with CHDs, these are generally not phenotyped and described in the same way as CHDs in patients, and thus are not readily comparable. Moreover, most patients with CHDs carry variants of uncertain significance of crucial cardiac genes, further complicating comparisons between humans and mouse mutants. In spite of major advances in cardiac developmental biology over the past 25 years, these advances have not been well communicated to geneticists and cardiologists. As a consequence, the latest data from developmental biology are not always used in the design and interpretation of studies aimed at discovering the genetic causes of CHDs. In this Special Article, while considering other in vitro and in vivo models, we create a coherent framework for accurately modelling and phenotyping human CHDs in mice, thereby enhancing the translation of genetic and genomic studies into the causes of CHDs in patients.

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Publication type Article: Journal article

Document type Review

Corresponding Author

Keywords Cardiac Phenotyping ; Congenital Heart Defect ; Developmental Biology ; Disease Modelling ; Gene Variant ; Genetics ; Genomics ; Human Patient ; Mouse Model ; Structural Anomalies

ISSN (print) / ISBN 1754-8403

e-ISSN 1754-8411

Journal Disease Models and Mechanisms

Quellenangaben Volume: 17, Issue: 11, Article Number: dmm050913

Publisher Company of Biologists

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Experimental Genetics (IEG)

Grants Institut National de la Santé et de la Recherche Médicale
AFM-Telethon
Additional Ventures
Pro-CNIC Foundation
Instituto de Salud Carlos III
European Regional Development Fund
Agencia Estatal de Investigación