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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 &gt; C, leading to a premature stop codon. We propose that heterozygous mutations in  MEIS1  may cause congenital thrombocytopenia.

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