{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:58:54Z","timestamp":1789955934810,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T00:00:00Z","timestamp":1478476800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in <jats:italic>KMT2D<\/jats:italic>. <jats:italic>KMT2D<\/jats:italic> p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes. Our findings further support the potential etiological link between these two classically distinct conditions. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38010","type":"journal-article","created":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T10:55:44Z","timestamp":1478516144000},"page":"183-189","source":"Crossref","is-referenced-by-count":17,"title":["<i>KMT2D<\/i> p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki\/CHARGE connection"],"prefix":"10.1002","volume":"173","author":[{"given":"Lauren","family":"Badalato","sequence":"first","affiliation":[{"name":"Faculty of Medicine Department of Genetics Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sali M. K.","family":"Farhan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medicine Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison A.","family":"Dilliott","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medicine Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Care4Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis E.","family":"Bulman","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Departments of Pediatrics Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Hegele","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medicine Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharan L.","family":"Goobie","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics London Health Sciences Centre Western University London Ontario Canada"},{"name":"Medical Genetics Department of Pediatrics IWK Health Centre Dalhousie University Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12051"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2415-14-143"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bfgp\/els017"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12730"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103279"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11690"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30144"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34074"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"e_1_2_7_13_1","unstructured":"LalaniSR HefnerMA BelmontJW DavenportSLH (Updated Feb 2 2012). CHARGE syndrome. In:GeneReviewsat Gene Tests Medical Genetics Information Resource.Seattle: Copyright University of Washington 1997\u20132013. Available athttp:\/\/www.genetests.org. 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