{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:04:27Z","timestamp":1753862667543,"version":"3.41.2"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"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":["Birth Defects Research"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The familial occurrence of esophageal atresia and tracheoesophageal fistula (EA\u2010TEF) is very rare and the genetic basis behind the isolated familial cases have not been identified. A male infant born with EA\u2010TEF and his affected father were evaluated with whole genome sequence to define a genetic causative variation in paternally inherited EA\u2010TEF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Report<\/jats:title><jats:p>A male infant was born to 29\u2010years\u2010old, gravida 1, para 1 women by normal vaginal delivery. The patient was diagnosed as Type\u2010C EA\u2010TEF. In his family history, his father was also operated for EA\u2010TEF during neonatal period. He had no associated anomaly despite patent foramen ovale. Genomic DNAs were extracted from peripheral blood of the patient and the father. When causative genes responsible for EA\u2010TEF were filtered out, four different variants in <jats:italic>NOTCH2<\/jats:italic>, <jats:italic>SAMD9<\/jats:italic>, <jats:italic>SUPT20H<\/jats:italic> and <jats:italic>CHRND<\/jats:italic> were found. Except the variant found in <jats:italic>CHRND<\/jats:italic> (NM_000751.2, c.381C&gt;G, p.(Tyr127Ter)), other three variants were not found to be segregated with the father who has EA\u2010TEF also. This nonsense variant was not found in GnomAD database.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>CHRND<\/jats:italic> variant found in both EA\u2010TEF patient and his affected father suggest that <jats:italic>CHRND<\/jats:italic> variant might possibly be considered as one of the causative genetic variants in familial isolated EA\u2010TEF patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2286","type":"journal-article","created":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T07:49:48Z","timestamp":1702453788000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>CHRND<\/i> variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case"],"prefix":"10.1002","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1505-6042","authenticated-orcid":false,"given":"Tutku","family":"Soyer","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem","family":"Boybeyi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beren","family":"Karaosmano\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekim","family":"Ta\u015fk\u0131ran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem Pelin","family":"\u015eim\u015fek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,12]]},"reference":[{"issue":"3","key":"e_1_2_6_2_1","first-page":"100","article-title":"Familiaal voorkomen van slokdarmatresie [Familial occurrence of esophageal atresia]","volume":"61","author":"Casteels K.","year":"1993","journal-title":"Tijdschrift voor Kindergeneeskunde"},{"doi-asserted-by":"publisher","key":"e_1_2_6_3_1","DOI":"10.1016\/0022-3468(70)90011-4"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_1","DOI":"10.1007\/s00383-004-1287-3"},{"doi-asserted-by":"publisher","key":"e_1_2_6_5_1","DOI":"10.1016\/j.xhgg.2022.100093"},{"doi-asserted-by":"publisher","key":"e_1_2_6_6_1","DOI":"10.1186\/s12920-020-00737-6"},{"doi-asserted-by":"publisher","key":"e_1_2_6_7_1","DOI":"10.1093\/brain\/awl188"},{"doi-asserted-by":"publisher","key":"e_1_2_6_8_1","DOI":"10.1002\/ajmg.1320390403"},{"doi-asserted-by":"publisher","key":"e_1_2_6_9_1","DOI":"10.1136\/jmg.2005.038158"},{"doi-asserted-by":"publisher","key":"e_1_2_6_10_1","DOI":"10.1053\/jpsu.2001.27051"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.2286","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T05:26:19Z","timestamp":1720675579000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.2286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,12]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/bdr2.2286"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.2286","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"type":"print","value":"2472-1727"},{"type":"electronic","value":"2472-1727"}],"subject":[],"published":{"date-parts":[[2023,12,12]]},"assertion":[{"value":"2023-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2286"}}