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Genetics and genomics of bone marrow failure syndrome

Inherited bone marrow failure syndrome (IBMFS) is a group of clinically heterogeneous disorders characterized by significant hematological cytopenias of one or more hematopoietic cell lineages and is associated with an increased risk of cancer. The genetic etiology of IBMFS includes germline mutatio...

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Autores principales: Kim, Hyun-Young, Kim, Hee-Jin, Kim, Sun-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9057661/
https://www.ncbi.nlm.nih.gov/pubmed/35483932
http://dx.doi.org/10.5045/br.2022.2022056
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author Kim, Hyun-Young
Kim, Hee-Jin
Kim, Sun-Hee
author_facet Kim, Hyun-Young
Kim, Hee-Jin
Kim, Sun-Hee
author_sort Kim, Hyun-Young
collection PubMed
description Inherited bone marrow failure syndrome (IBMFS) is a group of clinically heterogeneous disorders characterized by significant hematological cytopenias of one or more hematopoietic cell lineages and is associated with an increased risk of cancer. The genetic etiology of IBMFS includes germline mutations impacting several key biological processes, such as DNA repair, telomere biology, and ribosome biogenesis, which may cause four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. Although the clinical features of some patients may be typical of a particular IBMFS, overlapping and atypical clinical manifestations and variable penetrance pose diagnostic challenges. Here, we review the clinical and genetic features of the major forms of IBMFS and discuss their molecular genetic diagnosis. Next-generation sequencing-based gene panel testing or whole exome sequencing will help elucidate the genetic causes and underlying mechanisms of this genetically heterogeneous group of diseases.
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spelling pubmed-90576612022-05-10 Genetics and genomics of bone marrow failure syndrome Kim, Hyun-Young Kim, Hee-Jin Kim, Sun-Hee Blood Res Review Article Inherited bone marrow failure syndrome (IBMFS) is a group of clinically heterogeneous disorders characterized by significant hematological cytopenias of one or more hematopoietic cell lineages and is associated with an increased risk of cancer. The genetic etiology of IBMFS includes germline mutations impacting several key biological processes, such as DNA repair, telomere biology, and ribosome biogenesis, which may cause four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. Although the clinical features of some patients may be typical of a particular IBMFS, overlapping and atypical clinical manifestations and variable penetrance pose diagnostic challenges. Here, we review the clinical and genetic features of the major forms of IBMFS and discuss their molecular genetic diagnosis. Next-generation sequencing-based gene panel testing or whole exome sequencing will help elucidate the genetic causes and underlying mechanisms of this genetically heterogeneous group of diseases. Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 2022-04-30 2022-04-30 /pmc/articles/PMC9057661/ /pubmed/35483932 http://dx.doi.org/10.5045/br.2022.2022056 Text en © 2022 Korean Society of Hematology https://creativecommons.org/licenses/by-nc/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Kim, Hyun-Young
Kim, Hee-Jin
Kim, Sun-Hee
Genetics and genomics of bone marrow failure syndrome
title Genetics and genomics of bone marrow failure syndrome
title_full Genetics and genomics of bone marrow failure syndrome
title_fullStr Genetics and genomics of bone marrow failure syndrome
title_full_unstemmed Genetics and genomics of bone marrow failure syndrome
title_short Genetics and genomics of bone marrow failure syndrome
title_sort genetics and genomics of bone marrow failure syndrome
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9057661/
https://www.ncbi.nlm.nih.gov/pubmed/35483932
http://dx.doi.org/10.5045/br.2022.2022056
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