{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T13:18:12Z","timestamp":1785417492018,"version":"3.56.0"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,10,11]],"date-time":"2018-10-11T00:00:00Z","timestamp":1539216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Child Cancer foundation"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n<jats:italic>DDX41<\/jats:italic> has recently been identified as a new autosomal dominantly inherited cancer predisposition syndrome causing increased risk of adult onset acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). We report for the first time compound heterozygote germline missense <jats:italic>DDX41<\/jats:italic> mutations located in the DEAD\u2010box domain, identified in two siblings by exome sequencing. Both siblings have slight dysmorphic findings, psychomotor delays and intellectual disability, and one developed blastic plasmacytoid dendritic cell neoplasm (BPDCN) at age five. RNA\u2010sequencing of bone marrow showed DDX41 expression including both mutations. However, the allele fraction of p.Pro321Leu accounted for 96% in the RNA\u2010sequencing indicating this mutation to be the more significant variant. Exome sequencing of the leukemic blasts identified no additional known driver mutations. There is no pattern indicating autosomal dominantly inherited cancer predisposition in the family, but the father has sarcoidosis, which has been associated with heterozygous <jats:italic>DDX41<\/jats:italic> mutation. We propose that bi\u2010allelic mutations in <jats:italic>DDX41<\/jats:italic> could potentially be a new cancer predisposition syndrome associated with delayed psychomotor development.<\/jats:p>","DOI":"10.1002\/gcc.22680","type":"journal-article","created":{"date-parts":[[2018,8,25]],"date-time":"2018-08-25T08:03:45Z","timestamp":1535184225000},"page":"670-674","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Putative new childhood leukemia cancer predisposition syndrome caused by germline bi\u2010allelic missense mutations in <i>DDX41<\/i>"],"prefix":"10.1002","volume":"57","author":[{"given":"Birgitte R.","family":"Diness","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotte","family":"Risom","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Frandsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bente","family":"Hansen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nordsj\u00e6llands Hospital  Hiller\u00f8d Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette K.","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kjeld","family":"Schmiegelow","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2882-6798","authenticated-orcid":false,"given":"Karin A. 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