ArticleJournal of perinatology : official journal of the California Perinatal Association2013
A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1.
Article in Journal of perinatology : official journal of the California Perinatal Association, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 14 citations in OpenAlex.
- Article
- Outcomes of patients undergoing allogeneic haematopoietic stem cell transplantation for congenital amegakaryocytic thrombocytopenia; a study on behalf of the PDWP of the EBMT.Bone marrow transplantation · 2024Article
- CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.Haematologica · 2021Article
- Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.Haematologica · 2018Article
- A novel prospective isolation of murine fetal liver progenitors to study in utero hematopoietic defects.PLoS genetics · 2018Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
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Abstract
We observed a neonate who had severe thrombocytopenia wherein evaluations for neonatal immune-mediated thrombocytopenia and congenital infections were negative, and the marrow findings were consistent with congenital amegakaryocytic thrombocytopenia (CAMT). A genomic microarray identified a microdeletion at 21q22.11 including the gene RUNX1. Two somewhat similar cases were recently reported, but with multiple congenital anomalies that are not present in our case. We propose that a 21q22 deletion resulting in RUNX1 haploinsufficiency can produce a phenotype similar to CAMT with various associated anomalies depending on which adjacent genes are absent or disrupted.
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