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Letter| November 25, 2025

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

Sophie De Tocqueville,

Sophie De Tocqueville

Imagine Institute for Genetic Diseases, Paris, France

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Flavia Donaires,

Flavia Donaires

University of Sao Paulo at Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil

https://orcid.org/0000-0001-9996-1298

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Nicholas F DeCleene,

Nicholas F DeCleene

Baylor College of Medicne, Houston, Texas, United States

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Ibrahima Ba,

Ibrahima Ba

APHP, Paris, France

https://orcid.org/0000-0001-5338-3883

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Mina Nouri,

Mina Nouri

Imagine Institute for Genetic Diseases, Paris, France

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Laëtitia Kermasson,

Laëtitia Kermasson

Institut IMAGINE UMR1163, Paris, France

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Malika Chelbi,

Malika Chelbi

APHP, Bichat, Paris, France

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Emmanuel Bergot,

Emmanuel Bergot

CHU Caen Normandie, Caen, France

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Thierry M Leblanc,

Thierry M Leblanc

Hôpital Robert-Debré - APHP and Université Paris-Cité, Paris Cedex 19, France

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Raphael Borie,

Raphael Borie

Hopital Bichat, PAris, France

https://orcid.org/0000-0002-9906-0024

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Quentin Philippot,

Quentin Philippot

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Elise Antone,

Elise Antone

Pneumopôle d'Aunis, La Rochelle, France, La Rochelle, France

https://orcid.org/0009-0005-5337-6292

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Grégoire Prevot,

Grégoire Prevot

CHU Larrey-Rangueil, Toulouse, France

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Elodie Blanchard,

Elodie Blanchard

CHU de Bordeaux, Pessac, France

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Boris Keren,

Boris Keren

hopital pitie-salpetriere

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Elodie Lainey,

Elodie Lainey

Hôpital Robert Debré, GHU AP-HP Nord - Université Paris Cité, Paris, France

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Marilia Bazzo Catto,

Marilia Bazzo Catto

University of São Paulo at Ribeirão Preto Medical School, Ribeirão Preto, Brazil

https://orcid.org/0009-0008-2107-6174

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Barbara A. Santana,

Barbara A. Santana

University of Sao Paulo, Ribeirao Preto, Brazil

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Settara C. Chandrasekharappa,

Settara C. Chandrasekharappa

National Institutes of Health, Bethesda, Maryland, United States

https://orcid.org/0000-0002-8084-0530

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Frank X. Donovan,

Frank X. Donovan

National Institutes of Health, Bethesda, Maryland, United States

https://orcid.org/0000-0002-7712-2335

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Luiz Fernando Bazzo Catto,

Luiz Fernando Bazzo Catto

National Heart Lung and Blood Institute, Bethesda, Maryland, United States

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Isabelle Callebaut,

Isabelle Callebaut

Sorbonne University, CNRS UMR7590, Museum National d'Histoire Naturelle, Paris, France

https://orcid.org/0000-0003-3124-887X

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Neal S. Young,

Neal S. Young

National Institutes of Health, Bethesda, Maryland, United States

https://orcid.org/0009-0007-0999-2519

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Carine Halfon-Domenech,

Carine Halfon-Domenech

Hospices Civils de Lyon, LYON, France

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Rodrigo T. Calado,

Rodrigo T. Calado

University of Sao Paulo, Ribeirao Preto, Brazil

https://orcid.org/0000-0002-7966-6029

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Alison A. Bertuch,

Alison A. Bertuch

Baylor College of Medicine, Houston, Texas, United States

https://orcid.org/0000-0003-1864-8502

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Fernanda Gutierrez-Rodrigues,

Fernanda Gutierrez-Rodrigues

National Heart, Lung, and Blood Institute (NHLBI)/NIH, Bethesda, Maryland, United States

https://orcid.org/0000-0003-3116-4588

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Caroline Kannengiesser,

Caroline Kannengiesser

Assistance publique-hôpitaux de Paris, Bichat, paris, France

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Patrick Revy

Patrick Revy

Imagine Institute for Genetic Diseases, Paris, France

* Corresponding Author; email: patrick.revy@inserm.fr

https://orcid.org/0000-0003-0758-8022

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Blood blood.2025031248.

https://doi.org/10.1182/blood.2025031248

Here we show that somatic genetic rescue is frequent in telomere biology disorders (TBDs) caused by germline ZCCHC8 variants. Our results highlight the critical intrinsic role of ZCCHC8 in human hematopoiesis and a potential mechanism for disease modification in TBDs.

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Copyright © 2025 American Society of Hematology

2025

Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.

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