{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T20:27:54Z","timestamp":1779222474033,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,12,15]],"date-time":"2020-12-15T00:00:00Z","timestamp":1607990400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Wiedemann\u2010Steiner Syndrome (WSS) is an autosomal dominant genetic condition caused by mutations in the <jats:italic>KMT2A<\/jats:italic> gene. Lysine methyltransferase, encoded by <jats:italic>KMT2A<\/jats:italic>, plays critical roles in the regulation of gene expression during early development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Trio\u2010based whole exome sequencing (Trio\u2010WES) was performed on a 15\u00a0months old Chinese girl and her two parents by MyGenostics (Beijing, China) using the Illumina HiSeq X ten system. Variants were confirmed with Sanger sequencing. She exhibited mild\/moderate intellectual disability (ID), hypotonia, hypertrichosis cubiti, hypertrichosis on the back, dysmorphic facies, psychomotor retardation, growth delay, small and puffy hands, fat pads anterior to calcanei, and palmar\/plantar grooves.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Trio\u2010WES revealed a novel <jats:italic>de novo<\/jats:italic> mutation of <jats:italic>KMT2A<\/jats:italic> gene (NM_001197104.1: c.3566G&gt;T, p.Cys1189Phe). WSS was diagnosed based on WES and clinical features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings expand the phenotypic and mutation spectra of WSS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1533","type":"journal-article","created":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T04:05:55Z","timestamp":1608091555000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Trio\u2010WES reveals a novel <i>de novo<\/i> missense mutation of <i>KMT2A<\/i> in a Chinese patient with Wiedemann\u2010Steiner syndrome: A case report"],"prefix":"10.1002","volume":"9","author":[{"given":"Xiong","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guijiao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9518-9584","authenticated-orcid":false,"given":"Yanjun","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2949-2999","authenticated-orcid":false,"given":"Wei","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410\u2010248"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.2741\/3466"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61534"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13254"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010019\u20100083\u2010x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010019\u201004936\u2010y"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37130"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.60698"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61407"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000019813"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33587"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010017\u20100033\u2010y"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1039"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010018\u20100909\u20100"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.004"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816674095"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12586"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3469"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.25100\/cm.v50i1.3555"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00021"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1530\/EDM\u201018\u20100085"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102350\u201015\u201049"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.186551"}],"container-title":["Molecular Genetics &amp; 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