{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,31]],"date-time":"2025-08-31T10:09:30Z","timestamp":1756634970366,"version":"3.40.5"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T00:00:00Z","timestamp":1642464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32GM008361"],"award-info":[{"award-number":["T32GM008361"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>KMT2D<\/jats:italic> are typically associated with Kabuki syndrome (KS), a rare multisystem disorder. KS is characterized by facial dysmorphisms, intellectual disability, skeletal and dermatoglyphic differences, and poor growth. Seventy percent of individuals with clinically diagnosed KS have a confirmed pathogenic variant in <jats:italic>KMT2D<\/jats:italic> or less commonly <jats:italic>KDM6A<\/jats:italic>. The majority of mutations found in <jats:italic>KMT2D<\/jats:italic> are de novo nonsense or frameshift, with deletions and duplications rarely reported in the literature. Here, we present the case of near complete deletion of <jats:italic>KMT2D<\/jats:italic> in a college student with normal intelligence discovered via exome sequencing and EpiSign methylation testing. This case provides evidence that large deletions in <jats:italic>KMT2D<\/jats:italic> are compatible with normal intelligence and presents EpiSign as a method for discovering molecular causes of KS not identified by traditional molecular testing.<\/jats:p>","DOI":"10.1002\/ajmg.a.62652","type":"journal-article","created":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T11:24:43Z","timestamp":1642505083000},"page":"1550-1555","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Near complete deletion of <scp><i>KMT2D<\/i><\/scp> in a college student"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0919-7933","authenticated-orcid":false,"given":"Catherine","family":"Gooch","sequence":"first","affiliation":[{"name":"Departments of Genetics and Pediatrics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2699-1933","authenticated-orcid":false,"given":"Jaclyn Paige","family":"Souder","sequence":"additional","affiliation":[{"name":"Medical Scientist Training Program University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew L.","family":"Tedder","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Kerkhof","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Molecular Diagnostics Division London Health Sciences Centre  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Lee","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6788-1151","authenticated-orcid":false,"given":"Raymond J.","family":"Louie","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6363-0016","authenticated-orcid":false,"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory, Molecular Diagnostics Division London Health Sciences Centre  London Ontario Canada"},{"name":"Department of Pathology and Laboratory Medicine Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin S.","family":"Fletcher","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9995-547X","authenticated-orcid":false,"given":"Nathaniel H.","family":"Robin","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Pediatrics University of Alabama at Birmingham  Birmingham Alabama USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,18]]},"reference":[{"volume-title":"GeneReviews(\u00ae)","year":"1993","author":"Adam M. 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