Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

Author:

Venugopal Parvathy123ORCID,Arts Peer123ORCID,Fox Lucy C.456ORCID,Simons Annet78,Hiwase Devendra K.13910,Bardy Peter G.311,Swift Annette12,Ross David M.2101113ORCID,van Vulpen Lize F. D.14ORCID,Buijs Arjan15,Bolton Kelly L.16,Getta Bartlomiej17ORCID,Furlong Eliska18ORCID,Carter Tina18,Krapels Ingrid19,Hoeks Marlijn20ORCID,Al Kindy Adila21,Al Kindy Farah21,de Munnik Sonja722,Evans Pamela23,Frank Mahalia S. B.12,Bournazos Adam M.2425ORCID,Cooper Sandra T.242526ORCID,Ha Thuong Thi127,Jackson Matilda R.1228ORCID,Arriola-Martinez Luis127ORCID,Phillips Kerry29,Brennan Yvonne9ORCID,Bakshi Madhura30,Ambler Karen1,Gao Song1,Kassahn Karin S.13ORCID,Kenyon Rosalie27,Hung Kevin9ORCID,Babic Milena1,McGovern Alan1,Rawlings Lesley1,Vakulin Cassandra1,Dejong Lucas1,Fathi Rema1,McRae Simon31,Myles Nicholas311,Ladon Dariusz1,Jongmans Marjolijn1532,Kuiper Roland P.1532,Poplawski Nicola K.329,Barbaro Pasquale12,Blombery Piers456,Brown Anna L.123ORCID,Hahn Christopher N.123ORCID,Scott Hamish S.1232733ORCID

Affiliation:

1. 1Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia

2. 2Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia

3. 3Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia

4. 4Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia

5. 5Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia

6. 6Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia

7. 7Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands

8. 8Radboud Institute for Oncology, Radboud University Medical Center, Nijmegen, The Netherlands

9. 9Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia

10. 10Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia

11. 11Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia

12. 12Department of Paediatric Haematology, Queensland Children’s Hospital, South Brisbane, QLD, Australia

13. 13Department of Haematology, Flinders Medical Centre, Adelaide, SA, Australia

14. 14Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

15. 15Department of Genetics, University Medical Center, Utrecht, The Netherlands

16. 16Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO

17. 17Department of Haematology, Liverpool Hospital, Liverpool, NSW, Australia

18. 18Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia

19. 19Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands

20. 20Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands

21. 21Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman

22. 22Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands

23. 23Children's Health Ireland at Crumlin, Dublin, Ireland

24. 24Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia

25. 25The Children's Medical Research Institute, Westmead, NSW, Australia

26. 26School of Medicine, Faculty of Health and Medicine, The University of Sydney, Sydney, NSW, Australia

27. 27ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia

28. 28Australian Genomics, Parkville, VIC, Australia

29. 29Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia

30. 30Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia

31. 31Western Haematology and Oncology Clinics, West Perth, WA, Australia

32. 32Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

33. 33UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia

Publisher

American Society of Hematology

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