학술논문
Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis.
Document Type
Case Study
Author
Source
Subject
*GENETIC variation
*TRANSCRIPTION factors
*HEMATOPOIETIC stem cells
*THROMBOCYTOPENIA
*BONE marrow
*GENETIC code
*MYELOID differentiation factor 88
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Language
ISSN
0953-7104
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. [ABSTRACT FROM AUTHOR]