{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:13:30Z","timestamp":1771668810134,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T00:00:00Z","timestamp":1629158400000},"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":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pyloric atresia (PA) is a rare gastrointestinal anomaly that occurs either as an isolated lesion or in association with other congenital or hereditary anomalies. Familial occurrence of PA with epidermolysis bullosa (EB) has been well documented and variants in <jats:italic>ITGA6<\/jats:italic>, <jats:italic>ITGB4<\/jats:italic>, and <jats:italic>PLEC<\/jats:italic> are known to cause EB with PA. However, no gene variants have been defined in familial isolated PA. Five siblings with familial isolated PA are presented that suggest biallelic <jats:italic>ITGB4<\/jats:italic> variants may underlie the development of PA without EB. Five siblings from two unrelated families with isolated PA were studied with exome sequencing (ES) to identify the genetic etiology in isolated familial cases. Exome sequencing was performed in one affected patient from each family. Validation and segregation studies were done by Sanger sequencing. Parents were first cousins in one family but there was no consanguinity in the other family. Type\u20102 PA was detected in both families and none of the probands had associated anomalies. All patients underwent successful gastroduodenostomy and have been under follow\u2010up uneventfully. All patients had biallelic <jats:italic>ITGB4<\/jats:italic> variants, c.2032G\u2009&gt;\u2009T p.(Asp678Tyr) being a novel one. Biallelic <jats:italic>ITGB4<\/jats:italic> variants may underlie the development of PA without associated EB. Further detection of variants in this gene may establish any possible genotype\u2013phenotype correlations.<\/jats:p>","DOI":"10.1002\/ajmg.a.62462","type":"journal-article","created":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T12:57:46Z","timestamp":1629205066000},"page":"3427-3432","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic <i>ITGB4<\/i> variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings"],"prefix":"10.1002","volume":"185","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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5564-4813","authenticated-orcid":false,"given":"Beren","family":"Karaosmanoglu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6040-6625","authenticated-orcid":false,"given":"Ekim Z.","family":"Taskiran","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pelin \u00d6zlem \u015eim\u015fek","family":"Kiper","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0130brahim","family":"Karnak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Hacettepe University, Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koray","family":"Boduro\u011flu","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":[[2021,8,17]]},"reference":[{"issue":"87","key":"e_1_2_8_2_1","first-page":"147","article-title":"Congenital pyloric atresia: The spectrum","volume":"2002","author":"Al\u2010Salem A.","year":"2002","journal-title":"International Surgery"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2013.10.009"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.1.70"},{"key":"e_1_2_8_5_1","first-page":"130","article-title":"Congenital pyloric atresia: A report of three cases and a review of the literature","volume":"69","author":"Bronsther B.","year":"1971","journal-title":"Surgery"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22922"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0484"},{"key":"e_1_2_8_8_1","first-page":"641","article-title":"Growth of the fetal stomach in normal pregnancies","volume":"70","author":"Goldstein I.","year":"1987","journal-title":"Obstetrics and Gynecology"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3468(03)00565-7"},{"key":"e_1_2_8_10_1","first-page":"449","article-title":"Congenital pyloric atresia: A report of three cases","volume":"76","author":"Kadowaki H.","year":"1981","journal-title":"The American Journal of Gastroenterology"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13792"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2018.05.019"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200105000-00003"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2000.8762"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120212"},{"key":"e_1_2_8_16_1","volume-title":"GeneReviews\u00ae","author":"Pfendner E. 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