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.
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Disclosure statement
No potential conflict of interest was reported by the author(s).
Author contribution
NO, LBS – performed genetic analyses and counseling.
TK, SNL, NM, OD - performed functional studies.
OSS, OG, JY, ES, HT - provided clinical care for the patient.
HT, OSS - wrote the manuscript.
HT, LBS, OSS, NO - initiated the study.
Supplementary material
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