{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T14:37:49Z","timestamp":1776955069495,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T00:00:00Z","timestamp":1544745600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Hypotrichosis\u2013lymphedema\u2013telangiectasia syndrome (HLTS) is a rare disorder caused by autosomal recessive and autosomal dominant mutations in <jats:italic>SOX18<\/jats:italic>. This gene encodes a transcription factor involved in the regulation and development of the human vasculature, lymphatic, and integumentary systems. Individuals with HLTS develop varying degrees of hypotrichosis, lymphedema, and telangiectasias. Other complications, such as renal failure and aortic dilation, have also been observed. Here, we report a neonate with a novel mutation in <jats:italic>SOX18<\/jats:italic> (c.541C&gt;T; p.Gln181stop) presenting with cardinal features of HLTS in addition to unique findings of severe chylothorax and relentless pulmonary hypertension that culminated in death. The purpose of this report is to summarize what is known about this evolving genetic syndrome and to speculate as to how mutations in <jats:italic>SOX18<\/jats:italic> might produce the phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.40532","type":"journal-article","created":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T11:14:38Z","timestamp":1544786078000},"page":"2824-2828","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A novel autosomal dominant mutation in <i>SOX18<\/i> resulting in a fatal case of hypotrichosis\u2013lymphedema\u2013telangiectasia syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1660-6448","authenticated-orcid":false,"given":"Hannah","family":"Wangberg","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of California, San Diego and Rady Children's Hospital  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen","family":"Wigby","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, San Diego and Rady Children's Hospital  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4512-2015","authenticated-orcid":false,"given":"Marilyn C.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, San Diego and Rady Children's Hospital  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2015.11.005"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp219"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-11-4026"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.26325"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07391"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/375614"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2014.06.004"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.03081"},{"key":"e_1_2_7_10_1","first-page":"1287","article-title":"Construction and functional analysis of novel dominant\u2010negative mutant of human Sox18 protein","volume":"78","author":"Milivojevic M.","year":"2013","journal-title":"Biochemistry"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12388"},{"key":"e_1_2_7_12_1","first-page":"1","article-title":"Neonate with hypotrichosis\u2013lymphedema\u2013telangiectasia and fatal pulmonary hypertension","volume":"10","author":"O'Donnell J.","year":"2015","journal-title":"Neonatology Today"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.06.095"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.01.001"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2015.04.004"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40532","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.40532","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40532","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T09:49:37Z","timestamp":1694684977000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40532"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1002\/ajmg.a.40532"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40532","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"2018-05-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}