{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T20:04:52Z","timestamp":1767211492410,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T00:00:00Z","timestamp":1610582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD098458"],"award-info":[{"award-number":["R01HD098458"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fibroblast growth factor receptor\u2010like 1 (<jats:italic>FGFRL1<\/jats:italic>) encodes a transmembrane protein that is related to fibroblast growth factor receptors but lacks an intercellular tyrosine kinase domain. in vitro studies suggest that FGFRL1 inhibits cell proliferation and promotes cell differentiation and cell adhesion. Mice that lack FGFRL1 die shortly after birth from respiratory distress and have abnormally thin diaphragms whose muscular hypoplasia allows the liver to protrude into the thoracic cavity. Haploinsufficiency of <jats:italic>FGFRL1<\/jats:italic> has been hypothesized to contribute to the development of congenital diaphragmatic hernia (CDH) associated with Wolf\u2010Hirschhorn syndrome. However, data from both humans and mice suggest that disruption of one copy of <jats:italic>FGFRL1<\/jats:italic> alone is insufficient to cause diaphragm defects. Here we report a female fetus with CDH whose 4p16.3 deletion allows us to refine the Wolf\u2010Hirschhorn syndrome CDH critical region to an approximately\u20091.9 Mb region that contains <jats:italic>FGFRL1<\/jats:italic>. We also report a male infant with isolated left\u2010sided diaphragm agenesis who carried compound heterozygous missense variants in <jats:italic>FGFRL1<\/jats:italic>. These cases provide additional evidence that deleterious <jats:italic>FGFRL1<\/jats:italic> variants may contribute to the development of CDH in humans.<\/jats:p>","DOI":"10.1002\/ajmg.a.62066","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T19:05:53Z","timestamp":1610737553000},"page":"836-840","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Evidence that <scp><i>FGFRL1<\/i><\/scp> contributes to congenital diaphragmatic hernia development in humans"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3233-258X","authenticated-orcid":false,"given":"Yoel","family":"Gofin","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Palmer","family":"Mackay","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0356-6889","authenticated-orcid":false,"given":"Keren","family":"Machol","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sundeep","family":"Keswani","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Surgery Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Di Gregorio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Citt\u00e0 della Salute e della Scienza University Hospital  Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria Giorgia","family":"Naretto","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Citt\u00e0 della Salute e della Scienza University Hospital  Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-7231","authenticated-orcid":false,"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Citt\u00e0 della Salute e della Scienza University Hospital  Torino Italy"},{"name":"Department of Medical Sciences University of Turin  Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andres","family":"Hernandez\u2010Garcia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1460-5169","authenticated-orcid":false,"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Molecular Physiology and Biophysics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2007.06143.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a015958"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1655755"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20235"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1262853"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.08.019"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.15.5296-5307.2002"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0777-8"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2017.3438"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2007.10.029"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.219.1.r01ap18236"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201652"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33660"},{"issue":"4","key":"e_1_2_8_16_1","first-page":"617","article-title":"Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development","volume":"17","author":"Trueb B.","year":"2006","journal-title":"International Journal of Molecular Medicine"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300281200"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016865"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6332"},{"key":"e_1_2_8_20_1","first-page":"151169","article-title":"The influence of genetics in congenital diaphragmatic hernia","volume":"151169","author":"Yu L.","year":"2019","journal-title":"Seminars in Perinatology"}],"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.62066","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62066","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62066","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T07:39:29Z","timestamp":1693640369000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,14]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/ajmg.a.62066"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62066","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,1,14]]},"assertion":[{"value":"2020-12-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}