The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
This study highlights the need for standardized approach to TTN variants, and investigation of missing heritability in myopathic individuals with het TTNtv. Establishing consensus on PSI-based thresholds will be essential for assessing cardiac risk and guiding the management of asymptomatic individuals.
Authors
- Job A.J. Verdonschot (ORCID: https://orcid.org/0000-0001-5549-1298)
- Mridul Johari (ORCID: https://orcid.org/0000-0002-3549-558X)
- Mariëlle van Gijn (ORCID: https://orcid.org/0000-0002-1073-0539)
- Leslie Matalonga Borrel
- Peter Hackman (ORCID: https://orcid.org/0000-0001-7890-5713)
- Ana Töpf (ORCID: https://orcid.org/0009-0003-6050-8519)
- Richarda M. de Voer (ORCID: https://orcid.org/0000-0002-8222-0343)
- Gisèle Bonne (ORCID: https://orcid.org/0000-0002-2516-3258)
- Lisenka E.L.M. Vissers (ORCID: https://orcid.org/0000-0001-6470-5497)
- Gaëtan Lesca (ORCID: https://orcid.org/0000-0001-7691-9492)
- Simona Balestrini (ORCID: https://orcid.org/0000-0001-5639-1969)
- Sergi Beltrán (ORCID: https://orcid.org/0000-0002-2810-3445)
- Maria Francesca Di Feo (ORCID: https://orcid.org/0000-0002-4090-9521)
- Mireille Cossée (ORCID: https://orcid.org/0000-0002-5931-7454)
- Aurélien Perrin (ORCID: https://orcid.org/0000-0001-5895-3064)
- Marco Savarese (ORCID: https://orcid.org/0000-0002-2591-244X)
- Holm Graessner
- Holger Lerche
- Kornelia Ellwanger
- German Demidov
- Anna Sarkozy
- B. Udd
- Steven Laurie
- Swethaa Natraj Gayathri
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Centre National de la Recherche Scientifique (FR)
- University Medical Center Groningen (NL)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- University of Groningen (NL)
- Université de Montpellier (FR)
- Harry Perkins Institute of Medical Research (AU)
- Great Ormond Street Hospital (GB)
- Maastricht University Medical Centre (NL)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Radboud University Medical Center (NL)
- Maastricht University (NL)
- Sorbonne Université (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Meyer Children's Hospital (IT)
- Institut de Myologie (FR)
- Pirkanmaa Hospital District (FI)
- Institut NeuroMyoGène (FR)
- University Children's Hospital Tübingen (DE)
- Tampere University Hospital (FI)
- Tampere University (FI)
- Hertie Institute for Clinical Brain Research (DE)
- Centro Nacional de Análisis Genómico (ES)
- Folkhälsans Forskningscentrum (FI)
- Centre de Recherche en Myologie
- University College London (GB)
- Universitat de Barcelona (ES)
- University of Tübingen (DE)
- Newcastle University (GB)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1016/j.gim.2025.101649
- Citations
- 1
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.39