Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis. (19th May 2022)

• Record Type: Journal Article
• Authors: Steinberg-Shemer, Orna; Orenstein, Naama; Krasnov, Tanya; Noy-Lotan, Sharon; Marcoux, Nathaly; Dgany, Orly; Yacobovich, Joanne; Gilad, Oded; Shabad, Evelyn; Basel-Salmon, Lina; Tamary, Hannah
• Is Part Of: Platelets. Volume 33:Number 4(2022)
• Page Start: 645
• Page End: 648
• Publication Date: 2022-05-19
• Subjects: Congenital -- MEIS1 -- thrombocytopenia; Blood platelets -- Periodicals; Blood Platelets -- Periodicals; 615.39
• DOI: 10.1080/09537104.2021.1961704
• Languages: English
• ISSNs: 0953-7104

Abstract

Abstract: The transcription factor MEIS1 (myeloid ectotrophic insertion site 1) is crucial for the maintenance of hematopoietic stem cells and for megakaryopoiesis. Germline variants in MEIS1 are associated with restless-leg syndrome, but were not previously shown to cause cytopenias. This is the first report of a patient with congenital thrombocytopenia associated with a sequence variant in MEIS1, presenting with early onset severe thrombocytopenia and mild signs of bone marrow stress. Whole exome sequencing revealed a de novo monoallelic splice site variant in MEIS1, NM_002398.3:exon4:c.432 + 5 G > C, leading to a premature stop codon. We propose that heterozygous mutations in MEIS1 may cause congenital thrombocytopenia.