Somatic genetic rescue in <i>ZCCHC8</i> -associated telomere biology disorders
We show that somatic genetic rescue is frequent in telomere biology disorders (TBDs) caused by germ line ZCCHC8 variants. Our results highlight the critical intrinsic role of ZCCHC8 in human hematopoiesis and a potential mechanism for disease modification in TBDs.
Authors
- Élodie Lainey (ORCID: https://orcid.org/0000-0002-0224-4338)
- Rodrigo T. Calado (ORCID: https://orcid.org/0000-0002-7966-6029)
- Carine Halfon‐Domenech
- Quentin Philippot (ORCID: https://orcid.org/0000-0003-3429-9605)
- Patrick Revy (ORCID: https://orcid.org/0000-0003-0758-8022)
- Luiz Fernando Bazzo Catto (ORCID: https://orcid.org/0000-0002-4019-3850)
- Ibrahima Ba (ORCID: https://orcid.org/0000-0001-5338-3883)
- M. Chelbi
- Frank X. Donovan (ORCID: https://orcid.org/0000-0002-7712-2335)
- Alison A. Bertuch (ORCID: https://orcid.org/0000-0003-1864-8502)
- Flávia S. Donaires (ORCID: https://orcid.org/0000-0001-9996-1298)
- Neal S. Young (ORCID: https://orcid.org/0009-0007-0999-2519)
- Marília B Catto (ORCID: https://orcid.org/0009-0008-2107-6174)
- Bárbara A. Santana (ORCID: https://orcid.org/0000-0001-7361-0764)
- Isabelle Callebaut (ORCID: https://orcid.org/0000-0003-3124-887X)
- Settara C. Chandrasekharappa (ORCID: https://orcid.org/0000-0002-8084-0530)
- Raphaël Borie (ORCID: https://orcid.org/0000-0002-9906-0024)
- Élodie Blanchard (ORCID: https://orcid.org/0000-0001-5445-9122)
- Fernanda Gutierrez‐Rodrigues (ORCID: https://orcid.org/0000-0003-3116-4588)
- Nicholas F. DeCleene (ORCID: https://orcid.org/0000-0002-5279-2922)
- Laëtitia Kermasson
- Grégoire Prévôt (ORCID: https://orcid.org/0000-0002-5014-9730)
- Caroline Kannengiesser
- Sophie de Tocqueville
- Boris Keren
- Thierry Leblanc
- Emmanuel Bergot (ORCID: https://orcid.org/0000-0002-8097-8820)
- Mina Nouri
- Elise Antone (ORCID: https://orcid.org/0009-0005-5337-6292)
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Centre National de la Recherche Scientifique (FR)
- National Institutes of Health (US)
- Universidade de Ribeirão Preto (BR)
- Inserm (FR)
- Délégation Paris 7 (FR)
- Universidade de São Paulo (BR)
- Baylor College of Medicine (US)
- Université Paris Cité (FR)
- Université Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Sorbonne Université (FR)
- National Human Genome Research Institute (US)
- Laboratoire de Minéralogie & Cosmochimie du Muséum (FR)
- La Ligue Contre le Cancer (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- National Heart, Lung, and Blood Institute (US)
- Centre Hospitalier Universitaire de Caen Normandie (FR)
- Pitié-Salpêtrière Hospital (FR)
- Muséum national d'Histoire naturelle (FR)
- Hôpital Robert-Debré (FR)
- Hôpital Larrey (FR)
- Centre Hospitalier de La Rochelle (FR)
- Hôpital Bichat-Claude-Bernard (FR)
- Institut de minéralogie, de physique des matériaux et de cosmochimie (FR)
- Clinics Hospital of Ribeirão Preto (BR)
- Institut des Maladies Génétiques Imagine (FR)
- La Rochelle Université (FR)
- Université de Caen Normandie (FR)
Publication Details
- Journal
- Blood
- Published
- 2025-11-25
- DOI
- https://doi.org/10.1182/blood.2025031248
- Citations
- 1
- Primary Topic
- Telomeres, Telomerase, and Senescence
- Type
- article
- Field-Weighted Citation Impact
- 1.16
Funders
- U.S. Department of Health and Human Services
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale
- Fundação de Amparo à Pesquisa do Estado de São Paulo
- Centre National de la Recherche Scientifique
- National Institutes of Health