{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T16:27:57Z","timestamp":1774542477797,"version":"3.50.1"},"reference-count":23,"publisher":"Universidad del Valle","issue":"1","license":[{"start":{"date-parts":[[2019,3,30]],"date-time":"2019-03-30T00:00:00Z","timestamp":1553904000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/?lang=es"}],"content-domain":{"domain":["colombiamedica.univalle.edu.co"],"crossmark-restriction":true},"short-container-title":["Colomb Med"],"abstract":"<jats:p>Case Description:We report the case of a one-year-old girl who was diagnosed with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift mutation in the KMT2A gene by whole exome sequencing and supported by her clinical features.\r\nClinical Findings:KMT2A mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, intellectual disability, and distinct facial features.\r\nTreatment and Outcome:Whole exome sequencing identified a novel frameshift variant: c. 4177dupA (p.Ile1393Asnfs * 14) in KMT2A; this change generates an alteration of the specific binding to non-methylated CpG motifs of the DNA to the protein. The genotype and phenotype of the patient were compared with those of earlier reported patients in the literature.\r\nClinical Relevance:In diseases with low frequency, it is necessary to establish a genotype-phenotype correlation that allows the establishment of therapeutic and follow-up goals. The phenotype comparation with other reported cases did not show differences attributable to sex or age among patients with Wiedemann-Steiner Syndrome. Whole exome sequencing allows identifying causality in conditions with high clinical and genetic heterogeneity like hypertrichosis.<\/jats:p>","DOI":"10.25100\/cm.v50i1.3555","type":"journal-article","created":{"date-parts":[[2019,5,16]],"date-time":"2019-05-16T18:35:00Z","timestamp":1558031700000},"page":"40-45","update-policy":"https:\/\/doi.org\/10.25100\/cm.v36i.4","source":"Crossref","is-referenced-by-count":12,"title":["Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report"],"prefix":"10.25100","volume":"50","author":[{"given":"Diana","family":"Ramirez Monta\u00f1o","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry","family":"Pachajoa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10728","published-online":{"date-parts":[[2019,3,30]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0161-3"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00021"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38025"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.03.006"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-49"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00741-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00740-2"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1408914"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1535-8"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.154"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14601"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33587"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3999"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37130"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.23.10470-10478.2004"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36590"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009262"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1159\/000441512"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12586"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37681"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.03.006"}],"container-title":["Colombia Medica"],"original-title":[],"link":[{"URL":"https:\/\/colombiamedica.univalle.edu.co\/index.php\/comedica\/article\/download\/3926\/4227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/colombiamedica.univalle.edu.co\/index.php\/comedica\/article\/download\/3926\/4228","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/colombiamedica.univalle.edu.co\/index.php\/comedica\/article\/download\/3926\/4230","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/colombiamedica.univalle.edu.co\/index.php\/comedica\/article\/download\/3926\/4229","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/colombiamedica.univalle.edu.co\/index.php\/comedica\/article\/download\/3926\/4227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T18:13:30Z","timestamp":1722968010000},"score":1,"resource":{"primary":{"URL":"https:\/\/colombiamedica.univalle.edu.co\/index.php\/comedica\/article\/view\/3926"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,30]]},"references-count":23,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,3,30]]}},"URL":"https:\/\/doi.org\/10.25100\/cm.v50i1.3555","relation":{},"ISSN":["1657-9534","0120-8322"],"issn-type":[{"value":"1657-9534","type":"electronic"},{"value":"0120-8322","type":"print"}],"subject":[],"published":{"date-parts":[[2019,3,30]]},"assertion":[{"value":"Yes","name":"crosschecked","label":"CrossChecked"},{"value":"Yes","name":"peer_reviewed","label":"Peer Reviewed"}]}}