{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:11:51Z","timestamp":1761718311746},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,5,12]],"date-time":"2014-05-12T00:00:00Z","timestamp":1399852800000},"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":[[2014,8]]},"abstract":"<jats:sec><jats:label \/><jats:p>Recognition of the gene implicated in a Mendelian disorder subsequently leads to an expansion of potential phenotypes associated with mutations in that gene as patients with features beyond the core phenotype are identified by sequencing. Here, we present a young girl with developmental delay, short stature despite a markedly advanced bone age, hypertrichosis without elbow hair, renal anomalies, and dysmorphic facial features, found to have a heterozygous, de novo, intragenic deletion encompassing exons 2\u201310 of the <jats:italic>KMT2A<\/jats:italic> (<jats:italic>MLL<\/jats:italic>) gene detected by whole exome sequencing. Heterozygous mutations in this gene were recently demonstrated to cause Wiedemann\u2013Steiner syndrome (OMIM 605130). Importantly, retrospective analysis of this patient's chromosomal microarray revealed decreased copy number of two probes corresponding to exons 2 and 9 of the <jats:italic>KMT2A<\/jats:italic> gene, though this result was not reported by the testing laboratory in keeping with standard protocols for reportable size cutoffs for array comparative genomic hybridization. This patient expands the clinical phenotype associated with mutations in <jats:italic>KMT2A<\/jats:italic> to include variable patterns of hypertrichosis and a significantly advanced bone age with premature eruption of the secondary dentition despite her growth retardation. This patient also represents the first report of Wiedemann\u2013Steiner syndrome due to an exonic deletion, supporting haploinsufficiency as a causative mechanism. Our patient also illustrates the need for sensitive guidelines for the reporting of chromosomal microarray findings that are below traditional reporting size cutoffs, but that impact exons or other genomic regions of known function. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36590","type":"journal-article","created":{"date-parts":[[2014,5,12]],"date-time":"2014-05-12T19:39:11Z","timestamp":1399923551000},"page":"2079-2083","source":"Crossref","is-referenced-by-count":36,"title":["Advanced bone age in a girl with Wiedemann\u2013Steiner syndrome and an exonic deletion in <i>KMT2A<\/i> (<i>MLL<\/i>)"],"prefix":"10.1002","volume":"164","author":[{"given":"Bryce A.","family":"Mendelsohn","sequence":"first","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Francisco San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Pronold","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine University of California San Francisco San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger","family":"Long","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Pediatrics University of California San Francisco San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nizar","family":"Smaoui","sequence":"additional","affiliation":[{"name":"GeneDx, Inc. Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Francisco San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,5,12]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.7.2.158"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2012.04.004"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460523"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195909000-00030"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33587"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01148.x"},{"key":"e_1_2_4_9_1","first-page":"419","article-title":"Treatment of precocious puberty in McCune\u2010Albright syndrome","volume":"4","author":"Mieszczak J","year":"2007","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.2217\/ijh.13.20"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2005.18.10.1019"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.129"}],"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.36590","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36590","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:29:32Z","timestamp":1696570172000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36590"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,12]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36590"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36590","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,12]]}}}