دورية أكاديمية
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
| العنوان: | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. |
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| المؤلفون: | Bury L; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Megy K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Stephens JC; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Grassi L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Gleadall N; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Althaus K; Institute for Immunology and Transfusion Medicine, Universitätsmedizin Greifswald Ernst-Moritz-Arndt University Greifswald, Greifswald, Germany.; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany., Allsup D; Hull York Medical School, University of Hull, York, UK., Bariana TK; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK., Bonduel M; Hematology/Oncology Department, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan', Buenos Aires, Argentina., Butta NV; Servicio de Hematología y Hemoterapia Hospital, Universitario La Paz-IDIPaz, Madrid, Spain., Collins P; Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, UK., Curry N; Department of Clinical Haematology, Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford, UK., Deevi SVV; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Downes K; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Duarte D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Elliott K; Oxford Haemophilia & Thrombosis Centre, Department of Haematology, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford and the NIHR BRC, Blood Theme, Oxford Centre for Haematology, Oxford, UK., Falcinelli E; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Furie B; Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts., Keeling D; Churchill Hospital, Oxford University Hospitals, UK., Lambert MP; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Linger R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Mangles S; Basingstoke and Hampshire Hospital, NHS Foundation Trust, UK., Mapeta R; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Millar CM; Hampshire Hospital NHS Foundation Trust, UK.; Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, UK., Penkett C; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Perry DJ; Department of Haematology, Addenbrooke's Hospital, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Stirrups KE; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Turro E; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge Institute of Public Health, Cambridge, UK., Westbury SK; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Wu J; British Columbia Children's Hospital, Vancouver, Canada., BioResource N; NIHR BioResource, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK., Gomez K; Transfusion Medicine, Medical Faculty Tübingen, Tübingen, Germany., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK.; NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.; Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Cambridge, UK., Gresele P; Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy., Simeoni I; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; NIHR BioResource - Rare Diseases, Cambridge Biomedical Campus, Cambridge University Hospitals, Cambridge, UK. |
| المصدر: | Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 277-290. Date of Electronic Publication: 2019 Oct 15. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York : Wiley-Liss, c1992- |
| مواضيع طبية MeSH: | Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Genetic Variation* , High-Throughput Nucleotide Sequencing*/methods, Myosin Heavy Chains/*genetics, Adolescent ; Adult ; Aged ; Alleles ; Child ; Child, Preschool ; Chromosome Mapping ; Evolution, Molecular ; Female ; Fluorescent Antibody Technique ; Gene Expression ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Myosin Heavy Chains/metabolism ; Phenotype ; Young Adult |
| مستخلص: | The heterogeneous manifestations of MYH9-related disorder (MYH9-RD), characterized by macrothrombocytopenia, Döhle-like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging in clinical practice. We collected phenotypic data and analyzed the genetic variants in more than 3,000 patients with a bleeding or platelet disorder. Patients were enrolled in the BRIDGE-BPD and ThromboGenomics Projects and their samples processed by high throughput sequencing (HTS). We identified 50 patients with a rare variant in MYH9. All patients had macrothrombocytes and all except two had thrombocytopenia. Some degree of bleeding diathesis was reported in 41 of the 50 patients. Eleven patients presented hearing impairment, three renal failure and two elevated liver enzymes. Among the 28 rare variants identified in MYH9, 12 were novel. HTS was instrumental in diagnosing 23 patients (46%). Our results confirm the clinical heterogeneity of MYH9-RD and show that, in the presence of an unclassified platelet disorder with macrothrombocytes, MYH9-RD should always be considered. A HTS-based strategy is a reliable method to reach a conclusive diagnosis of MYH9-RD in clinical practice. (© 2019 The Authors. Human Mutation published by Wiley Periodicals, Inc.) |
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| معلومات مُعتمدة: | RBAG/142 International NHS Blood and Transplant; RG65966 United Kingdom DH_ Department of Health; MR/J011711/1 United Kingdom MRC_ Medical Research Council; RBAG/342 United Kingdom WT_ Wellcome Trust; 208 United Kingdom BHF_ British Heart Foundation; 295 International MRC; RBAG/344 International European Commission; RBAG/245 United Kingdom BHF_ British Heart Foundation; 226 United Kingdom BHF_ British Heart Foundation; RBAG/285 International MRC; RBAG/181 United Kingdom DH_ Department of Health |
| فهرسة مساهمة: | Keywords: ACMG guidelines; MYH9-related disorders; clinical diagnosis; genomics; high throughput sequencing; variant classification |
| المشرفين على المادة: | 0 (MYH9 protein, human) EC 3.6.4.1 (Myosin Heavy Chains) |
| تواريخ الأحداث: | Date Created: 20190929 Date Completed: 20210519 Latest Revision: 20210519 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC6972977 |
| DOI: | 10.1002/humu.23927 |
| PMID: | 31562665 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1098-1004 |
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| DOI: | 10.1002/humu.23927 |