Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis.
Platelets
; 33(4): 645-648, 2022 May 19.
Article
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| MEDLINE
| ID: mdl-35130804
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_002398.3exon4c.432 + 5 G > C, leading to a premature stop codon. We propose that heterozygous mutations in MEIS1 may cause congenital thrombocytopenia.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Trombocitopenia
/
Factores de Transcripción
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Platelets
Asunto de la revista:
HEMATOLOGIA
Año:
2022
Tipo del documento:
Article