Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis
Our study revealed that no variants were found in the <i>ACTC1</i>, <i>TPM1</i>, and <i>TNNI3</i> genes in the HYPERGEN cohort. However, we identified variants in five out of the eight HCM core genes, with a high prevalence in young patients. We identified variants in three recent HCM-associated genes (<i>SVIL</i>, <i>FHOD3</i>, and <i>TRIM63</i>) in 35 patients, with 18 patients carrying unique variants (9%). Our results further emphasize the usefulness of exome data reanalysis, particularly in genotype-negative patients.
Authors
- Hélène Martel (ORCID: https://orcid.org/0000-0003-0316-4070)
- Pierre Lindenbaum (ORCID: https://orcid.org/0000-0003-0148-9787)
- Marine Herbane (ORCID: https://orcid.org/0009-0004-0387-7315)
- Karine Nguyen (ORCID: https://orcid.org/0000-0002-6889-3891)
- Harry J. Gilbert (ORCID: https://orcid.org/0000-0003-3597-2347)
- Hager Jaouadi (ORCID: https://orcid.org/0000-0002-6806-0072)
- Stéphane Zaffran (ORCID: https://orcid.org/0000-0002-0811-418X)
- Frédérique Magdinier (ORCID: https://orcid.org/0000-0002-0159-9559)
- Jean-Jacques Schott
- Victor Morel (ORCID: https://orcid.org/0009-0009-2586-0318)
- Claire Huang Lucas
- Lorcan Lamy de la Chapelle
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Aix-Marseille Université (FR)
- Institut du Thorax (FR)
- Hôpital de la Timone (FR)
- Centre de Génétique Médicale de Marseille (FR)
- Nantes Université (FR)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2024-10-31
- DOI
- https://doi.org/10.3389/fmed.2024.1480947
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi
- Fondation Lefoulon Delalande
- Institut National de la Santé et de la Recherche Médicale
- Sanofi Genzyme