Somatic Genetic Rescue in ZCCHC8-Associated Telomere Biology Disorders

Authors

• Sophie de Tocqueville
• Flavia Donaires
• Nicholas DeCleene
• Ibrahima Ba
• Mina Nouri
• Laëtitia Kermasson
• Malika Chelbi
• Emmanuel Bergot
• Thierry Leblanc
• Raphael Borie
• Quentin Philippot
• Elise Antone
• Grégoire Prévot
• Elodie Blanchard
• Boris Keren
• Elodie Lainey
• Marilia Catto
• Barbara Santana
• Settara C Chandrasekharappa
• Frank X Donovan
• Luiz Fernando Bazzo Catto
• Isabelle Callebaut
• Neal S Young
• Carine Halfon-Domenech
• Rodrigo T Calado
• Alison A Bertuch
• Fernanda Gutierrez-Rodrigues
• Caroline Kannengiesser
• Patrick Revy

Language

English

Publication Date

2-26-2026

Journal

Blood

DOI

10.1182/blood.2025031248

PMID

41288530

PMCID

PMC12952278

PubMedCentral® Posted Date

3-3-2026

PubMedCentral® Full Text Version

Author MSS

Abstract

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.

Published Open-Access

yes

Recommended Citation

de Tocqueville, Sophie; Donaires, Flavia; DeCleene, Nicholas; et al., "Somatic Genetic Rescue in ZCCHC8-Associated Telomere Biology Disorders" (2026). Faculty, Staff and Students Publications. 7979.
https://digitalcommons.library.tmc.edu/baylor_docs/7979