{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:38Z","timestamp":1747146098132,"version":"3.40.5"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T00:00:00Z","timestamp":1545264000000},"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":[[2019,1]]},"abstract":"<jats:p>Kabuki syndrome (KS) is an extremely rare genetic disorder, mainly caused by germline mutations at specific epigenetic modifier genes, including <jats:italic>KMT2D<\/jats:italic>. Because the tumor suppressor gene <jats:italic>KMT2D<\/jats:italic> is also frequently altered in many cancer types, it has been suggested that KS may predispose to the development of cancer. However, KS being a rare disorder, few data are available on the incidence of cancer in KS patients.<\/jats:p><jats:p>Here, we report the case of a 5\u2010year\u2010old boy affected by KS who developed Burkitt lymphoma (BL). Genetic analysis revealed the presence of a novel heterozygous mutation in the splice site of the intron 4 of <jats:italic>KMT2D<\/jats:italic> gene in both peripheral blood\u2010extracted DNA and tumour cells. In addition, the tumour sample of the patient was positive for the classical somatic chromosomal translocation t(8;14) involving the <jats:italic>c\u2010MYC<\/jats:italic> gene frequently identified in BL. We propose that the mutated <jats:italic>KMT2D<\/jats:italic> gene contributes to the development of both KS and BL observed in our patient and we suggest that strict surveillance must be performed in KS patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.60674","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T09:14:15Z","timestamp":1545297255000},"page":"113-117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel <i>KMT2D<\/i> mutation"],"prefix":"10.1002","volume":"179","author":[{"given":"Emmanuel","family":"de Billy","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology\/Oncology and Cellular and Gene Therapy Bambino Ges\u00f9 Children's Hospital  Rome 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