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Article

Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2.

American journal of medical genetics. Part A - 1 Jun 2026

Schecter Daniel R, Zamalin Danielle, Abdow V Peter, Francisco Brenton, Drago Matthew, Ratner Veniamin, Tinker Rory J

Abstract excerpt

Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT-2) is a rare inherited bone marrow failure syndrome characterized by congenital or progressive thrombocytopenia, frequent radioulnar synostosis, and variable multisystem involvement. It is caused by heterozygous germline pathogenic variants in the MDS1 and EVI1 Complex Locus (MECOM) gene, which encodes transcription factors essential for...

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Source

Identifiers

PMID: 41635268
DOI: 10.1002/ajmga.70077

Genes

MECOM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.Semantic proximity Read ↗

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