Somatic genetic rescue in <i>ZCCHC8</i> -associated telomere biology disorders
Abstract
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.
Article Details
Authors (29)
Sophie de Tocqueville
1Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer “LIGUE 2023”, INSERM UMR 1163, Imagine Institute, Paris, France
Flavia Donaires
4Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
Nicholas DeCleene
5Department of Pediatrics, Baylor College of Medicine, Houston, TX
Ibrahima Ba
7Assistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris, France
Mina Nouri
1Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer “LIGUE 2023”, INSERM UMR 1163, Imagine Institute, Paris, France
Laëtitia Kermasson
1Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer “LIGUE 2023”, INSERM UMR 1163, Imagine Institute, Paris, France
Malika Chelbi
7Assistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris, France
Emmanuel Bergot
Thierry Leblanc
Immuno-hématologie Pédiatrique, Hôpital Robert-Debré, Université Paris-Cité, Paris
Raphael Borie
10Service de Pneumologie, Allergologie et Transplantation, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Centre de référence constitutif des maladies pulmonaires rares, Paris, France
Quentin Philippot
10Service de Pneumologie, Allergologie et Transplantation, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Centre de référence constitutif des maladies pulmonaires rares, Paris, France
Elise Antone
11Pneumopôle d’Aunis, La Rochelle, France
Grégoire Prévot
Elodie Blanchard
13Service de Pneumologie, CHU de Bordeaux, Bordeaux, France
Boris Keren
14Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
Elodie Lainey
15Hematology Laboratory, Robert Debré Hospital-Assistance Publique-Hôpitaux de Paris, INSERM UMR 1131-Hematology University Institute-Denis Diderot School of Medicine, Paris, France
Marilia Catto
4Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
Barbara Santana
4Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
Settara C. Chandrasekharappa
Frank X. Donovan
Luiz Fernando Bazzo Catto
17Translational Stem Cell Biology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD
Isabelle Callebaut
Neal S. Young
Carine Halfon-Domenech
20Institute of Pediatric Hematology-Oncology, University of Lyon 1, Hospices Civils de Lyon, Lyon, France
Rodrigo T. Calado
4Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
Alison A. Bertuch
5Department of Pediatrics, Baylor College of Medicine, Houston, TX
Fernanda Gutierrez-Rodrigues
Caroline Kannengiesser
7Assistance Publique des Hôpitaux de Paris, Hôpital Bichat, Service de Génétique, Université Paris Diderot, Paris, France
Patrick Revy
1Laboratory of Genome Dynamics in Human Diseases, Equipe Labellisée Ligue contre le Cancer “LIGUE 2023”, INSERM UMR 1163, Imagine Institute, Paris, France