{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:16:37Z","timestamp":1791389797611,"version":"4.3.3"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T00:00:00Z","timestamp":1430352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann\u2013Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in <jats:italic>KMT2A<\/jats:italic>. Single nucleotide polymorphism (SNP) microarray was done on both twins and whole\u2010exome sequencing was done using both parents and one of the affected twins. SNP microarray confirmed that they were monozygotic twins. A <jats:italic>de novo heterozygous<\/jats:italic> variant (p. Arg1083*) in the <jats:italic>KMT2A<\/jats:italic> gene was identified through whole\u2010exome sequencing, confirming the diagnosis of WSS. In this study, we have identified a de novo mutation in <jats:italic>KMT2A<\/jats:italic> associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. This finding in monozygotic twins gives specificity to the WSS. The description of more cases of WSS is needed for further delineation of this condition. Small kidneys with normal function have not been described in this condition in the medical literature before. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37130","type":"journal-article","created":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T14:15:46Z","timestamp":1430403346000},"page":"2182-2187","source":"Crossref","is-referenced-by-count":29,"title":["A de novo Mutation in <i>KMT2A<\/i> (<i>MLL<\/i>) in monozygotic twins with Wiedemann\u2013Steiner Syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Sophie","family":"Dunkerton","sequence":"first","affiliation":[{"name":"University of Newcastle Callaghan New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Field","sequence":"additional","affiliation":[{"name":"Department of Immunology John Curtin School of Medical Research Australian National University Canberra City Australian Capital Territory Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicki","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Immunology John Curtin School of Medical Research Australian National University Canberra City Australian Capital Territory Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Bertram","sequence":"additional","affiliation":[{"name":"Australian Phenomics Facility The Australian National University Canberra City Australian Capital Territory Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda","family":"Whittle","sequence":"additional","affiliation":[{"name":"Australian Phenomics Facility The Australian National University Canberra City Australian Capital Territory Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Groves","sequence":"additional","affiliation":[{"name":"Hunter Genetics Waratah New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"University of Newcastle Callaghan New South Wales Australia"},{"name":"Hunter Genetics Waratah New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000356689"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320410"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33587"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.6.382"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01148.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36590"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00021"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-49"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_8_16_1","first-page":"198","volume-title":"A syndrome of abnormal facies, short stature, and psychomotor retardation. 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