{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T23:43:45Z","timestamp":1780098225774,"version":"3.54.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:00:00Z","timestamp":1683590400000},"content-version":"vor","delay-in-days":0,"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":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>PIEZO1 is required for lymphatic valve formation, and several lymphatic abnormalities have been reported to be associated with autosomal recessive <jats:italic>PIEZO1<\/jats:italic> pathogenic variants including neonatal hydrops, lymphedema involving various body regions, and chylothorax. Persistent or recurrent chylothorax has been infrequently described in association with pathogenic variants in the <jats:italic>PIEZO1<\/jats:italic> gene. We present a 4\u2010year\u2010old female with bilateral pleural effusions detected prenatally, who was diagnosed with bilateral chylothoraces <jats:italic>post\u2010partum<\/jats:italic>. She subsequently had recurrent pleural effusions involving both pleural cavities, which tended to improve with restriction of her fat intake, and, one occasion, subcutaneous octreotide. She also had bilateral calf, and intermittent cheek swelling. Genetic testing revealed two deleterious variants in <jats:italic>PIEZO1<\/jats:italic>: c.2330\u20102_2330\u20101del and c.3860G\u2009&gt;\u2009A (p.Trp1287*), both of which were classified as likely pathogenic. This supported a diagnosis of Lymphatic Malformation Type 6 (OMIM 616843), also known as Hereditary Lymphedema Type III. Hereditary Lymphedema type III can be associated with persistent chylothorax that can vary in size over time.<\/jats:p>","DOI":"10.1002\/ajmg.a.63237","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T21:15:07Z","timestamp":1683753307000},"page":"2188-2192","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in <scp><i>PIEZO1<\/i><\/scp>"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0521-8936","authenticated-orcid":false,"given":"Thomas","family":"Kovesi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children's Hospital of Eastern Ontario  Ottawa Eastern Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4903-6325","authenticated-orcid":false,"given":"Samantha K.","family":"Rojas","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario  Ottawa Eastern Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4186-8052","authenticated-orcid":false,"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario  Ottawa Eastern Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.00258"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/12034754221112002"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1193270"},{"key":"e_1_2_8_5_1","first-page":"85","article-title":"Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non\u2010immune hydrops fetalis","volume":"68","author":"Fotiou E.","year":"2015","journal-title":"Nature Communications"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2020.07.001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.17-6-552"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI155478"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01123-9"},{"key":"e_1_2_8_10_1","first-page":"329","article-title":"Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia","volume":"68","author":"Lukacs V.","year":"2015","journal-title":"Nature Communications"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1113\/JP275718"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI85794"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.090920"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1817070115"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1526-0542(04)90038-3"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2021.07.014"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62643"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2009.06.008"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2023643"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-2072"}],"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.63237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T12:24:01Z","timestamp":1692793441000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,9]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1002\/ajmg.a.63237"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63237","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,9]]},"assertion":[{"value":"2022-10-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}