{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:29Z","timestamp":1786976789547,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,19]],"date-time":"2019-03-19T00:00:00Z","timestamp":1552953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>\n                    This report presents two families with interstitial 11q24.2q24.3 deletion, associated with malformations, hematologic features, and typical facial dysmorphism, observed in Jacobsen syndrome (JS), except for intellectual disability (ID). The smallest 700 Kb deletion contains only two genes:\n                    <jats:italic>FLI1<\/jats:italic>\n                    and\n                    <jats:italic>ETS1<\/jats:italic>\n                    , and a long noncoding RNA,\n                    <jats:italic>SENCR<\/jats:italic>\n                    , narrowing the minimal critical region for some features of JS. Consistent with recent literature, it adds supplemental data to confirm the crucial role of\n                    <jats:italic>FLI1<\/jats:italic>\n                    and\n                    <jats:italic>ETS1<\/jats:italic>\n                    in JS, namely\n                    <jats:italic>FLI1<\/jats:italic>\n                    in thrombocytopenia and\n                    <jats:italic>ETS1<\/jats:italic>\n                    in cardiopathy and immune deficiency. It also supports that combined\n                    <jats:italic>ETS1<\/jats:italic>\n                    and\n                    <jats:italic>FLI1<\/jats:italic>\n                    haploinsufficiency explains dysmorphic features, notably ears, and nose anomalies. Moreover, it raises the possibility that\n                    <jats:italic>SENCR<\/jats:italic>\n                    , a long noncoding RNA, could be responsible for limb defects, because of its early role in endothelial cell commitment and function. Considering ID and autism spectrum disorder, which are some of the main features of JS, a participation of\n                    <jats:italic>ETS1<\/jats:italic>\n                    ,\n                    <jats:italic>FLI1,<\/jats:italic>\n                    or\n                    <jats:italic>SENCR<\/jats:italic>\n                    cannot be excluded. But, considering the normal neurodevelopment of our patients, their role would be either minor or with an important variability in penetrance. Furthermore, according to literature,\n                    <jats:italic>ARHGAP32<\/jats:italic>\n                    and\n                    <jats:italic>KIRREL3<\/jats:italic>\n                    seem to be the strongest candidate genes in the 11q24 region for other Jacobsen patients.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61113","type":"journal-article","created":{"date-parts":[[2019,3,19]],"date-time":"2019-03-19T21:23:41Z","timestamp":1553030621000},"page":"993-1000","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of\n                    <i>FLI1<\/i>\n                    ,\n                    <i>ETS1,<\/i>\n                    and\n                    <i>SENCR<\/i>\n                    long noncoding RNA"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4996-8357","authenticated-orcid":false,"given":"Sol\u00e8ne","family":"Conrad","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Demurger","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHBA Vannes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamran","family":"Moradkhani","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Pichon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoinette","family":"Perlat","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne\u2010Immunologie Clinique, CHU de Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"Dubourg","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et G\u00e9nomique, CHU Rennes  France"},{"name":"Univ Rennes, CNRS, IGDR (Institut de g\u00e9n\u00e9tique et d\u00e9veloppement de Rennes), UMR 6290  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Jaillard","sequence":"additional","affiliation":[{"name":"CHU Rennes, Service de Cytog\u00e9n\u00e9tique et Biologie Cellulaire, F\u201035033  Rennes France"},{"name":"INSERM U1085\u2010IRSET, Universit\u00e9 de Rennes 1  Rennes 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