{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T19:04:59Z","timestamp":1779908699018,"version":"3.53.1"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT\u20102) 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\n                    <jats:italic>MDS1 and EVI1 Complex Locus<\/jats:italic>\n                    (\n                    <jats:italic>MECOM<\/jats:italic>\n                    ) gene, which encodes transcription factors essential for hematopoietic stem cell regulation and embryonic development. Disruption of highly conserved zinc finger domains within\n                    <jats:italic>MECOM<\/jats:italic>\n                    impairs long\u2010term hematopoietic stem cell maintenance, leading to amegakaryocytic thrombocytopenia and, in many cases, progression to pancytopenia. Although\n                    <jats:italic>MECOM<\/jats:italic>\n                    is also implicated in leukemogenesis through somatic dysregulation, germline variants associated with RUSAT\u20102 result in a distinct developmental and hematologic phenotype with highly variable penetrance and age of onset. As of 2025, there were approximately 66 reported cases of RUSAT\u20102 reported in the literature, with clinical severity ranging from isolated thrombocytopenia to early\u2010onset bone marrow failure requiring hematopoietic stem cell transplantation. This review summarizes the current understanding of the genetic basis, clinical manifestations, differential diagnosis, clinical course, management considerations, and outstanding mechanistic questions surrounding RUSAT\u20102.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70077","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T08:49:22Z","timestamp":1770194962000},"page":"1239-1244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8662-912X","authenticated-orcid":false,"given":"Daniel R.","family":"Schecter","sequence":"first","affiliation":[{"name":"Department of Pediatrics Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Zamalin","sequence":"additional","affiliation":[{"name":"Division of Neonatology Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Peter","family":"Abdow","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0403-9845","authenticated-orcid":false,"given":"Brenton","family":"Francisco","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\u2013Oncology Steven and Alexandra Cohen Children's Medical Center of New York  New Hyde Park New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Drago","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Newborn Medicine Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veniamin","family":"Ratner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Newborn Medicine Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7093-8844","authenticated-orcid":false,"given":"Rory J.","family":"Tinker","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,4]]},"reference":[{"issue":"3","key":"e_1_2_12_2_1","article-title":"The Prevalence and Associated Risk Factors for Neonatal Thrombocytopenia Among Newborns Admitted to the Neonatal Intensive Care Unit","volume":"16","author":"Al Ghadeer H. 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