A landscape of germ line mutations in a cohort of inherited bone marrow failure patients

Author:

Bluteau Olivier123ORCID,Sebert Marie23,Leblanc Thierry4,Peffault de Latour Régis2567,Quentin Samuel1,Lainey Elodie8,Hernandez Lucie23,Dalle Jean-Hugues24,Sicre de Fontbrune Flore6,Lengline Etienne9,Itzykson Raphael2359,Clappier Emmanuelle123,Boissel Nicolas259,Vasquez Nadia1,Da Costa Mélanie1,Masliah-Planchon Julien3,Cuccuini Wendy1,Raimbault Anna123,De Jaegere Louis3,Adès Lionel29,Fenaux Pierre29,Maury Sébastien10,Schmitt Claudine1112,Muller Marc1112,Domenech Carine13,Blin Nicolas14,Bruno Bénédicte15,Pellier Isabelle1617,Hunault Mathilde1617,Blanche Stéphane1819,Petit Arnaud20,Leverger Guy20,Michel Gérard2122,Bertrand Yves13,Baruchel André245,Socié Gérard267,Soulier Jean123

Affiliation:

1. Hematology Laboratory, Saint-Louis Hospital, Assistance Publique–Hôpitaux de Paris (APHP), Paris, France;

2. University Paris Diderot, Paris, France;

3. Institut Universitaire d’Hématologie, INSERM U944/Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 7212, Paris, France;

4. Department of Pediatric Hematology, Robert Debré Hospital, Paris, France;

5. Equipe d’accueil (EA) 3518, Institut Universitaire d’Hématologie, Paris, France;

6. Hematology/Transplantation, Saint-Louis Hospital, APHP, Paris, France;

7. INSERM UMR 1160, Paris, France;

8. Hematology Laboratory, Robert Debré Hospital, Paris, France;

9. Clinical Hematology Departments, Saint-Louis Hospital, Paris, France;

10. Hematology Department, Henri Mondor Hospital, Créteil, France;

11. Hematology Pediatrics Department and

12. Genetic Laboratory, Centre Hospitalier Régionaux et Universitaire Nancy, Vandoeuvre lès Nancy, France;

13. Institut of Hematology and Pediatric Oncology, Université Lyon 1, Hospices Civils de Lyon, Lyon, France;

14. Hematology Department, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France;

15. Pediatrics Hematology, CHU de Lille, Lille, France;

16. Hematology-Oncology-Immunology Department, CHU Angers, Angers, France;

17. Centre de Recherche en Cancérologie et Immunologie Nantes Angers, INSERM/Nantes University/Angers University, Angers, France;

18. Pediatric Hematology Immunology Unit, Necker-Enfants-Malades Hospital, Paris, France;

19. Paris Descartes University, Paris, France;

20. Pediatric Hematology-Oncology, Trousseau Hospital/Hôpitaux Universitaires Est Parisien, Paris, France;

21. Department of Pediatric Hematology and Oncology, Timone Enfants Hospital, Marseille, France; and

22. EA 3279, Aix-Marseille University, Marseille, France

Abstract

Key Points Next-generation sequencing broadens the spectrum of germ line mutations in a cohort of patients with likely-inherited BMF. Salient clinical features and distinct natural histories are consistently found in SAMD9L and SAMD9, MECOM/EVI1, and ERCC6L2 disorders.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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