Novel Truncating Variant c.1222DupC in <i>RBM20</i> Causes Cardiomyopathy Consistent With Haploinsufficiency
BACKGROUND: are a major cause of familial dilated cardiomyopathy, and lead to missplicing of RBM20 target genes. METHODS: -c.1222DupC human induced pluripotent stem cells, differentiated these into human induced pluripotent stem cell-derived cardiomyocytes, and evaluated splicing changes and calcium handling. RESULTS: ). Finally, we observed increased calcium transients. CONCLUSIONS: c.1222DupC as a truncating variant that causes dilated cardiomyopathy likely through haploinsufficiency.
Authors
- Laura Konrad
- Fang Bai (ORCID: https://orcid.org/0000-0003-1468-5568)
- Ahmed Alameldeen (ORCID: https://orcid.org/0000-0003-2466-7515)
- Yong Huang (ORCID: https://orcid.org/0000-0003-4939-3493)
- Elena Kemmling
- Zakiya Ghouse
- Rebecca Kistler
- Maarten M G van den Hoogenhof
- Victoria N Parikh
- Priyanka Pant
- Timon Seeger
- Michael Gotthardt
Institutions
- Helmholtz Association of German Research Centres (DE)
- Max Delbrück Center (DE)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- German Centre for Cardiovascular Research (DE)
- Stanford Medicine (US)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2026-04-30
- DOI
- https://doi.org/10.1161/circgen.125.005471
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft