{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T11:18:16Z","timestamp":1769512696895,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T00:00:00Z","timestamp":1476835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81400872"],"award-info":[{"award-number":["81400872"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670812"],"award-info":[{"award-number":["81670812"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>KMT2A<\/jats:italic> mutations cause Wiedemann\u2013Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense <jats:italic>KMT2A<\/jats:italic> mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature\u2014hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the <jats:italic>KMT2A<\/jats:italic> mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability. The common facial features include thick eyebrows, long eyelashes, downslanting, and narrow palpebral fissures, wide nasal bridge, and broad nasal tip. They have generalized hypertrichosis. A hairy back can be observed as frequently as hairy elbows in patients with <jats:italic>KMT2A<\/jats:italic> mutations. Absent palmar proximal transverse creases are only observed in these two Chinese boys. This might be due to the difference in ethnic background. Thus far, all mutations in <jats:italic>KMT2A<\/jats:italic> are located before the FYRC domain. They would truncate <jats:italic>KMT2A<\/jats:italic> mRNA transcripts. Haploinsufficiency of the histone methyltransferase activity would therefore influence transcriptional regulation. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38025","type":"journal-article","created":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T13:06:46Z","timestamp":1476882406000},"page":"510-514","source":"Crossref","is-referenced-by-count":42,"title":["Further delineation of the phenotype of truncating <i>KMT2A<\/i> mutations: The extended Wiedemann\u2013Steiner syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Yu","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guorui","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huili","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuo","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanjie","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefan","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics Xinhua Hospital Shanghai Jiao Tong University School of Medicine Shanghai Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,10,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000441512"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103233"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36590"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12586"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00740-2"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-015-0578-x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-49"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34147"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI77435"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38025","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38025","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38025","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T18:48:56Z","timestamp":1694717336000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38025"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,19]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1002\/ajmg.a.38025"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38025","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,19]]}}}