{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T12:26:50Z","timestamp":1789475210401,"version":"build-2803163510"},"reference-count":28,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T00:00:00Z","timestamp":1707177600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Council for Scientific and Technological Development (CNPq)","award":["#309782\/2020"],"award-info":[{"award-number":["#309782\/2020"]}]},{"name":"National Council for Scientific and Technological Development (CNPq)","award":["#2019\/21644-0"],"award-info":[{"award-number":["#2019\/21644-0"]}]},{"name":"National Council for Scientific and Technological Development (CNPq)","award":["#2018\/08890-9"],"award-info":[{"award-number":["#2018\/08890-9"]}]},{"name":"Sao Paulo Research Foundation (FAPESP)","award":["#309782\/2020"],"award-info":[{"award-number":["#309782\/2020"]}]},{"name":"Sao Paulo Research Foundation (FAPESP)","award":["#2019\/21644-0"],"award-info":[{"award-number":["#2019\/21644-0"]}]},{"name":"Sao Paulo Research Foundation (FAPESP)","award":["#2018\/08890-9"],"award-info":[{"award-number":["#2018\/08890-9"]}]},{"name":"Coordination of Superior Level Staff Improvement (CAPES)","award":["#309782\/2020"],"award-info":[{"award-number":["#309782\/2020"]}]},{"name":"Coordination of Superior Level Staff Improvement (CAPES)","award":["#2019\/21644-0"],"award-info":[{"award-number":["#2019\/21644-0"]}]},{"name":"Coordination of Superior Level Staff Improvement (CAPES)","award":["#2018\/08890-9"],"award-info":[{"award-number":["#2018\/08890-9"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil\u2019s Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.2 deletion syndrome were further investigated through whole-exome sequencing. Three patients (6.7%) presented with heterozygous pathogenic variants in the KMT2A gene, including a novel variant (c.6158+1del) and two that had been previously reported (c.173dup and c.3241C&gt;T); reverse phenotyping concluded that all three patients presented features of Wiedemann\u2013Steiner syndrome, such as neurodevelopmental disorders and dysmorphic facial features (n = 3), hyperactivity and anxiety (n = 2), thick eyebrows and lower-limb hypertrichosis (n = 2), congenital heart disease (n = 1), short stature (n = 1), and velopharyngeal insufficiency (n = 2). Overlapping features between 22q11.2 deletion syndrome and Wiedemann\u2013Steiner syndrome comprised neuropsychiatric disorders and dysmorphic characteristics involving the eyes and nose region; velopharyngeal insufficiency was seen in two patients and is an unreported finding in WDSTS. Therefore, we suggest that both conditions should be included in each other\u2019s differential diagnoses.<\/jats:p>","DOI":"10.3390\/genes15020211","type":"journal-article","created":{"date-parts":[[2024,2,6]],"date-time":"2024-02-06T03:22:31Z","timestamp":1707189751000},"page":"211","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome"],"prefix":"10.3390","volume":"15","author":[{"given":"Henrique Garcia","family":"Silveira","sequence":"first","affiliation":[{"name":"Disciplina de Gen\u00e9tica, Departamento de Morfologia e Gen\u00e9tica, Universidade Federal de S\u00e3o Paulo (Unifesp), S\u00e3o Paulo 04023-062, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5148-3063","authenticated-orcid":false,"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovana","family":"Toccoli","sequence":"additional","affiliation":[{"name":"Disciplina de Gen\u00e9tica, Departamento de Morfologia e Gen\u00e9tica, Universidade Federal de S\u00e3o Paulo (Unifesp), S\u00e3o Paulo 04023-062, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luise Longo","family":"Angeloni","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00falia L\u00f4ndero","family":"Heleno","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samira","family":"Spineli-Silva","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8793-5532","authenticated-orcid":false,"given":"Ana Mondadori","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil"},{"name":"Faculdade S\u00e3o Leopoldo Mandic (SLMandic), Campinas 13045-755, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4344-9698","authenticated-orcid":false,"given":"Maria Isabel","family":"Melaragno","sequence":"additional","affiliation":[{"name":"Disciplina de Gen\u00e9tica, Departamento de Morfologia e Gen\u00e9tica, Universidade Federal de S\u00e3o Paulo (Unifesp), S\u00e3o Paulo 04023-062, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/MD.0b013e3182060469","article-title":"Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome\/Velocardiofacial Syndrome)","volume":"90","author":"Sullivan","year":"2011","journal-title":"Medicine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 deletion syndrome","volume":"1","author":"Sullivan","year":"2015","journal-title":"Nat. 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