The clinical impact of copy number variants in inherited bone marrow failure syndromes
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 w...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2017
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/fab055366f7246f79c31483ee2eaa142 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:fab055366f7246f79c31483ee2eaa142 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:fab055366f7246f79c31483ee2eaa1422021-12-02T11:42:12ZThe clinical impact of copy number variants in inherited bone marrow failure syndromes10.1038/s41525-017-0019-22056-7944https://doaj.org/article/fab055366f7246f79c31483ee2eaa1422017-05-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0019-2https://doaj.org/toc/2056-7944Blood 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.Nicolas WaespeSanthosh DhanrajManju WahalaElena TsangarisTom EnbarBozana ZlateskaHongbing LiRobert J. KlaassenConrad V. FernandezGeoff D. E. CuvelierJohn K. WuYves D. PastoreMariana SilvaJeffrey H. LiptonJoseé BrossardBruno MichonSharon AbishMacGregor SteeleRoona SinhaMark J. BelletruttiVicky R. BreakeyLawrence JardineLisa GoodyearLiat KoflerMichaela CadaLillian SungMary ShagoStephen W. SchererYigal DrorNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Genetics QH426-470 |
| spellingShingle |
Medicine R Genetics QH426-470 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 The clinical impact of copy number variants in inherited bone marrow failure syndromes |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Nicolas Waespe |
| title |
The clinical impact of copy number variants in inherited bone marrow failure syndromes |
| title_short |
The clinical impact of copy number variants in inherited bone marrow failure syndromes |
| title_full |
The clinical impact of copy number variants in inherited bone marrow failure syndromes |
| title_fullStr |
The clinical impact of copy number variants in inherited bone marrow failure syndromes |
| title_full_unstemmed |
The clinical impact of copy number variants in inherited bone marrow failure syndromes |
| title_sort |
clinical impact of copy number variants in inherited bone marrow failure syndromes |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/fab055366f7246f79c31483ee2eaa142 |
| work_keys_str_mv |
AT nicolaswaespe theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT santhoshdhanraj theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT manjuwahala theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT elenatsangaris theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT tomenbar theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT bozanazlateska theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT hongbingli theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT robertjklaassen theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT conradvfernandez theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT geoffdecuvelier theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT johnkwu theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT yvesdpastore theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT marianasilva theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT jeffreyhlipton theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT joseebrossard theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT brunomichon theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT sharonabish theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT macgregorsteele theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT roonasinha theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT markjbelletrutti theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT vickyrbreakey theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT lawrencejardine theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT lisagoodyear theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT liatkofler theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT michaelacada theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT lilliansung theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT maryshago theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT stephenwscherer theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT yigaldror theclinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT nicolaswaespe clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT santhoshdhanraj clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT manjuwahala clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT elenatsangaris clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT tomenbar clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT bozanazlateska clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT hongbingli clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT robertjklaassen clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT conradvfernandez clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT geoffdecuvelier clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT johnkwu clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT yvesdpastore clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT marianasilva clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT jeffreyhlipton clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT joseebrossard clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT brunomichon clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT sharonabish clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT macgregorsteele clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT roonasinha clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT markjbelletrutti clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT vickyrbreakey clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT lawrencejardine clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT lisagoodyear clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT liatkofler clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT michaelacada clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT lilliansung clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT maryshago clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT stephenwscherer clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes AT yigaldror clinicalimpactofcopynumbervariantsininheritedbonemarrowfailuresyndromes |
| _version_ |
1718395378761465856 |