{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T07:31:32Z","timestamp":1786692692368,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T00:00:00Z","timestamp":1786665600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30DK040561"],"award-info":[{"award-number":["P30DK040561"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra\u2010short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated with any identifiable genetic conditions or syndromes. This study aimed at identifying specific genes associated with this phenotype in humans.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Children with a history of SBS due to malrotation with midgut volvulus were identified. Children with SBS due to multiple diagnoses, with non\u2010midgut volvulus, or with an identified genetic syndrome were excluded. Whole\u2010genome sequencing (WGS) was performed on the proband and their biological parents.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twenty\u2010three families provided consent to be enrolled in the study, and WGS was obtained from 21 complete families (proband and two parents). Two patients had variants in the glutathione S\u2010transferase theta 4 gene (\n                      <jats:italic>GSTT4<\/jats:italic>\n                      ). Two patients had variants in the coiled\u2010coil domain\u2010containing 175 gene (\n                      <jats:italic>CCDC175<\/jats:italic>\n                      ). Two patients had a de novo heterozygous variant in the WW domain\u2010containing binding protein 4 gene (\n                      <jats:italic>WBP4<\/jats:italic>\n                      ). Three patients had de novo heterozygous likely pathogenic variants in\n                      <jats:italic>TFRC<\/jats:italic>\n                      , which encodes the transferrin receptor.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We identified four genes of potential interest in the etiology of malrotation and midgut volvulus, suggesting that the condition may be genetically heterogeneous. While the genes of interest identified have not yet been shown to be involved in the pathophysiology of this condition, they provide important areas for further investigation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jpr3.70230","type":"journal-article","created":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T07:06:03Z","timestamp":1786691163000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic sequencing of children with malrotation and midgut volvulus: A cross\u2010sectional study"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9741-2863","authenticated-orcid":false,"given":"Jonathan A.","family":"Salazar","sequence":"first","affiliation":[{"name":"Division of Gastroenterology, Hepatology, and Nutrition Connecticut Children's Hartford Connecticut USA"},{"name":"Connecticut Children's Intestinal Rehabilitation Program Connecticut Children's Hartford Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shira","family":"Rockowitz","sequence":"additional","affiliation":[{"name":"Children's Rare Disease Collaborative Boston Children's Hospital Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital Boston Massachusetts USA"},{"name":"Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney E.","family":"French","sequence":"additional","affiliation":[{"name":"Children's Rare Disease Collaborative Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanqing","family":"Shao","sequence":"additional","affiliation":[{"name":"Children's Rare Disease Collaborative Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel M.","family":"Elman","sequence":"additional","affiliation":[{"name":"The Institutional Centers for Clinical and Translational Research Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra N.","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA"},{"name":"Division of Gastroenterology, Hepatology, and Nutrition Boston Children's Hospital Boston Massachusetts USA"},{"name":"Center for Advanced Intestinal Rehabilitation Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Jaksic","sequence":"additional","affiliation":[{"name":"Center for Advanced Intestinal Rehabilitation Boston Children's Hospital Boston Massachusetts USA"},{"name":"Department of Surgery Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Sliz","sequence":"additional","affiliation":[{"name":"Children's Rare Disease Collaborative Boston Children's Hospital Boston Massachusetts USA"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital Boston Massachusetts USA"},{"name":"Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA"},{"name":"Division of Molecular Medicine Boston Children's Hospital Boston Massachusetts USA"},{"name":"Department of Biological Chemistry and Molecular Pharmacology Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen Hann","family":"Tan","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA"},{"name":"Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher P.","family":"Duggan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA"},{"name":"Division of Gastroenterology, Hepatology, and Nutrition Boston Children's Hospital Boston Massachusetts USA"},{"name":"Center for Advanced Intestinal Rehabilitation Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,14]]},"reference":[{"issue":"3","key":"e_1_2_8_2_1","first-page":"250","article-title":"Irreversible intestinal failure","volume":"38","author":"Goulet O","year":"2004","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"7","key":"e_1_2_8_3_1","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1056\/NEJMra1602650","article-title":"Pediatric intestinal failure","volume":"377","author":"Duggan 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