ArticleHaematologica2012
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.
Article in Haematologica, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 50 citations in OpenAlex.
- Nationwide survey in France on the use of romiplostim in patients with refractory severe aplastic anemia.Bone marrow transplantation · 2019Trial
- Current view on the etiopathogenesis of aplastic anemia.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2025Review
- Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.Diseases (Basel, Switzerland) · 2024Article
- Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.Journal, genetic engineering & biotechnology · 2023Article
- CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.Haematologica · 2021Article
- Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.Annals of hematology · 2021Review
- The Pathophysiology of Acquired Aplastic Anemia: Current Concepts Revisited.Hematology/oncology clinics of North America · 2018Review
- iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.Cell death & disease · 2018Article
- Article
- Bone marrow transplantation versus immunosuppressive therapy in patients with acquired severe aplastic anemia.International journal of hematology · 2016Review
- Eltrombopag for the treatment of aplastic anemia: current perspectives.Drug design, development and therapy · 2016Review
- Article
- Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Best practice & research. Clinical haematology · 2015Review
- Inhibition of Thrombopoietin/Mpl Signaling in Adult Hematopoiesis Identifies New Candidates for Hematopoietic Stem Cell Maintenance.PloS one · 2015Article
- Genetic characterization of acquired aplastic anemia by targeted sequencing.Haematologica · 2014Article
- Human leukocyte telomere length is associated with DNA methylation levels in multiple subtelomeric and imprinted loci.Scientific reports · 2014Article
- Exome sequencing greatly expedites the progressive research of Mendelian diseases.Frontiers of medicine · 2014Review
- Review
- Article
- Genomic characterization of the inherited bone marrow failure syndromes.Seminars in hematology · 2013Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to a Nimblegen exome library before being sequenced on a GAIIx genome analyzer. Once the disease causing homozygous mutation had been confirmed in the consanguineous family, this gene was then analyzed for mutation in 33 uncharacterized index cases of aplastic anemia (<13 years) using denaturing HPLC. Abnormal traces were confirmed by direct sequencing. Exome sequencing identified a novel homozygous nonsense mutation in the thrombopoietin receptor gene MPL. An additional novel homozygous MPL mutation was identified in the screen of 33 aplastic anemia patients. This study shows for the first time a link between homozygous MPL mutations and familial aplastic anemia. It also highlights the important role of MPL in trilineage hematopoiesis.
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