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Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis.
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.
Afiliação
  • Steinberg-Shemer O; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel.
  • Orenstein N; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Krasnov T; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Noy-Lotan S; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Marcoux N; Pediatric Genetic Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Dgany O; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel.
  • Yacobovich J; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel.
  • Gilad O; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel.
  • Shabad E; Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel.
  • Basel-Salmon L; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Tamary H; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Platelets ; 33(4): 645-648, 2022 May 19.
Article em En | MEDLINE | ID: mdl-35130804
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trombocitopenia / Fatores de Transcrição Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trombocitopenia / Fatores de Transcrição Idioma: En Ano de publicação: 2022 Tipo de documento: Article