A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease
Directed differentiation of iPSCs harbouring the GATA4 p.Arg284His genetic variant recapitulated the CHD phenotype, indicated disease mechanisms, and pointed to potential sites for targeting with therapy. The study highlights the utility of transcriptomics for the functional interpretation of cardiac genetic variants and is an exemplar for precision medicine approaches for the investigation of CHD.
Authors
- Livia C. Hool (ORCID: https://orcid.org/0000-0001-7758-5252)
- Michelle C. Ward (ORCID: https://orcid.org/0000-0003-1485-320X)
- Vanessa S. Fear (ORCID: https://orcid.org/0000-0001-8363-6685)
- Nicole C. Shaw (ORCID: https://orcid.org/0000-0003-0810-1503)
- Timo Lassmann (ORCID: https://orcid.org/0000-0002-0138-2691)
- Kevin G. Chen (ORCID: https://orcid.org/0000-0003-2983-6330)
- Mitchell Hedges
- Cathryn Poulton
- Catherine A. Forbes
- Gareth Baynam
- Teagan Er (ORCID: https://orcid.org/0009-0008-3078-4586)
Institutions
- The Kids Research Institute Australia (AU)
- The University of Western Australia (AU)
- Victor Chang Cardiac Research Institute (AU)
- King Edward Memorial Hospital (AU)
- Department of Health and Aged Care (AU)
Publication Details
- Journal
- Human Genomics
- Published
- 2026-01-03
- DOI
- https://doi.org/10.1186/s40246-025-00907-6
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00