Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis.

Autor: Steinberg-Shemer O; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel.; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Orenstein N; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Genetic Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Krasnov T; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel., Noy-Lotan S; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel., Marcoux N; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel., Dgany O; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel., Yacobovich J; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Gilad O; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Shabad E; Blood Bank, Carmel Medical Center, Haifa, Israel., Basel-Salmon L; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel., Tamary H; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel.; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Jazyk: angličtina
Zdroj: Platelets [Platelets] 2022 May 19; Vol. 33 (4), pp. 645-648. Date of Electronic Publication: 2022 Feb 08.
DOI: 10.1080/09537104.2021.1961704
Abstrakt: 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.
Databáze: MEDLINE
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