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

Orna Steinberg-Shemer, Naama Orenstein, Tanya Krasnov, Sharon Noy-Lotan, Nathaly Marcoux, Orly Dgany, Joanne Yacobovich, Oded Gilad, Evelyn Shabad, Lina Basel-Salmon, Hannah Tamary

Platelets 2022 May 19

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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.

Citation

Orna Steinberg-Shemer, Naama Orenstein, Tanya Krasnov, Sharon Noy-Lotan, Nathaly Marcoux, Orly Dgany, Joanne Yacobovich, Oded Gilad, Evelyn Shabad, Lina Basel-Salmon, Hannah Tamary. Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis. Platelets. 2022 May 19;33(4):645-648