npj Genomic Medicine (May 2017)
The clinical impact of copy number variants in inherited bone marrow failure syndromes
- Nicolas Waespe,
- Santhosh Dhanraj,
- Manju Wahala,
- Elena Tsangaris,
- Tom Enbar,
- Bozana Zlateska,
- Hongbing Li,
- Robert J. Klaassen,
- Conrad V. Fernandez,
- Geoff D. E. Cuvelier,
- John K. Wu,
- Yves D. Pastore,
- Mariana Silva,
- Jeffrey H. Lipton,
- Joseé Brossard,
- Bruno Michon,
- Sharon Abish,
- MacGregor Steele,
- Roona Sinha,
- Mark J. Belletrutti,
- Vicky R. Breakey,
- Lawrence Jardine,
- Lisa Goodyear,
- Liat Kofler,
- Michaela Cada,
- Lillian Sung,
- Mary Shago,
- Stephen W. Scherer,
- Yigal Dror
Affiliations
- Nicolas Waespe
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Santhosh Dhanraj
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Manju Wahala
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Elena Tsangaris
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Tom Enbar
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Bozana Zlateska
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Hongbing Li
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Robert J. Klaassen
- Department of Pediatrics, Children’s Hospital of Eastern Ontario
- Conrad V. Fernandez
- Pediatric Hematology/Oncology, IWK Health Centre
- Geoff D. E. Cuvelier
- Pediatric Hematology/Oncology, University of Manitoba, CancerCare Manitoba
- John K. Wu
- Division of Hematology/Oncology, UBC & B.C. Children’s Hospital
- Yves D. Pastore
- CHU Sainte-Justine
- Mariana Silva
- Kingston General Hospital
- Jeffrey H. Lipton
- Allogeneic Blood and Marrow Transplant Program, Princess Margaret Cancer Centre, University of Toronto
- Joseé Brossard
- Centre Hospitalier Universitaire
- Bruno Michon
- Centre Hospitalier Universitaire
- Sharon Abish
- Pediatric Hematology/Oncology, Montreal Children’s Hospital
- MacGregor Steele
- Alberta Children’s Hospital
- Roona Sinha
- Royal University Hospital
- Mark J. Belletrutti
- Department of Pediatrics, University of Alberta
- Vicky R. Breakey
- Department of Pediatrics, McMaster University
- Lawrence Jardine
- Children’s Hospital, London Health Sciences Centre
- Lisa Goodyear
- Pediatric Hematology/Oncology, Janeway Child Health Centre
- Liat Kofler
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Michaela Cada
- Institute of Medical Sciences, University of Toronto
- Lillian Sung
- Population Health Sciences, Research Institute, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children
- Mary Shago
- Cytogenetics Laboratory, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children
- Stephen W. Scherer
- Genetics and Genome Biology Program, The Hospital for Sick Children
- Yigal Dror
- Genetics and Genome Biology Program, The Hospital for Sick Children
- DOI
- https://doi.org/10.1038/s41525-017-0019-2
- Journal volume & issue
-
Vol. 2,
no. 1
pp. 1 – 8
Abstract
Blood disorders: impact of genomic structural variation Copy number variation in patients with inherited bone marrow failure syndromes (IBMFSs) is associated with more severe clinical symptoms. In addition to persistently low levels of red blood cells, white blood cells and/ or platelets, patients with IBMFSs also present varying degrees of physical malformations. Most cases are associated with single base-pair mutations in the DNA sequence, but Canadian researchers led by Yigal Dror at The Hospital for Sick Children in Toronto, have found that whole sections of the genome are deleted or repeated in an important proportion of patients. Those carrying copy number variants (CNV) presented more commonly with developmental delay, short stature and defects in more organ systems, than patients with point mutations. CNV analysis of patients with suspected IBMFSs could aid early disease evaluation and management.
