{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T01:24:36Z","timestamp":1778203476417,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T00:00:00Z","timestamp":1466380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ospedale Pediatrico Bambino Ges\u00f9 (GeneRare)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Wiedemann\u2013Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co\u2010workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and co\u2010workers, who also identified heterozygous <jats:italic>KMT2A<\/jats:italic> mutations as the molecular defect underlying this condition. Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels of immunoglobulins as additional features. Whole exome sequencing allowed identifying a previously unreported de novo <jats:italic>KMT2A<\/jats:italic> missense mutation affecting the DNA binding domain of the methyltransferase. This finding expands the clinical phenotype associated with <jats:italic>KMT2A<\/jats:italic> mutations to include immunodeficiency and epilepsy as clinically relevant features for this disorder. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37681","type":"journal-article","created":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T05:33:47Z","timestamp":1466400827000},"page":"2389-2393","source":"Crossref","is-referenced-by-count":35,"title":["Congenital immunodeficiency in an individual with Wiedemann\u2013Steiner syndrome due to a novel missense mutation in <i>KMT2A<\/i>"],"prefix":"10.1002","volume":"170","author":[{"given":"Emilia","family":"Stellacci","sequence":"first","affiliation":[{"name":"Department of Hematology, Oncology, and Molecular Medicine Istituto Superiore di Sanit\u00e0 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Rare Diseases and Genetic Disorders Fondazione Policlinico Universitario Agostino Gemelli Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Bruselles","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, and Molecular Medicine Istituto Superiore di Sanit\u00e0 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Pizzi","sequence":"additional","affiliation":[{"name":"Genetic Disorders and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9 IRCSS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenica","family":"Battaglia","sequence":"additional","affiliation":[{"name":"Infantile Neuropsychiatric Unit Fondazione Policlinico Universitario Agostino Gemelli Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Rare Diseases and Genetic Disorders Fondazione Policlinico Universitario Agostino Gemelli Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Rare Diseases and Genetic Disorders Fondazione Policlinico Universitario Agostino Gemelli Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetic Disorders and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9 IRCSS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2741\/3466"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3035"},{"key":"e_1_2_6_5_1","first-page":"1","article-title":"A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann\u2013Steiner syndrome","volume":"9999","author":"Dunkerton S","year":"2015","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2007.05.019"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33587"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3282"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22376"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36590"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00741-4"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12586"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.03.001"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00021"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-49"},{"key":"e_1_2_6_17_1","first-page":"198","volume-title":"A syndrome of abnormal facies, short stature, and psychomotor retardation. 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