{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T15:55:42Z","timestamp":1779378942775,"version":"3.53.1"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Congenital tufting enteropathy (CTE) is a rare autosomal recessive inherited disorder caused by mutations in the epithelial cell adhesion molecule (\n                    <jats:italic>EpCAM<\/jats:italic>\n                    ) gene, characterized by severe diarrhea and growth failure. Between December 2017 and December 2023, eight patients diagnosed with CTE at our hospital were retrospectively analyzed for their clinical and genetic features, alongside a comprehensive literature review. All patients presented with severe malnutrition and growth failure upon admission. Parenteral nutrition (PN) with high caloric intake was required for all patients to achieve growth catch\u2010up. A total of 142 patients with\n                    <jats:italic>EpCAM<\/jats:italic>\n                    mutations were reviewed, including 137 previously reported cases and five newly identified patients described in this study. Among the 114 CTE patients with detailed treatment information, 108 patients received PN therapy, with six patients successfully weaned off PN. Additionally, 19 patients underwent intestinal transplantation (IT). Outcome analysis revealed that 30 patients (27.3%) died, including five post\u2010IT deaths. A total of 68\n                    <jats:italic>EpCAM<\/jats:italic>\n                    mutations were identified, with most located in exon 3. The most frequently reported variant was c.499dup C. In this study, four novel mutations were detected in our patients. This study provides a comprehensive overview of the clinical and genetic characteristics of CTE, enhancing the understanding of its phenotype and genotype, particularly in Asian patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.14702","type":"journal-article","created":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:15:24Z","timestamp":1740096924000},"page":"69-74","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review"],"prefix":"10.1111","volume":"108","author":[{"given":"Youhong","family":"Fang","sequence":"first","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youyou","family":"Luo","sequence":"additional","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9097-0286","authenticated-orcid":false,"given":"Luojia","family":"Xu","sequence":"additional","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jindan","family":"Yu","sequence":"additional","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5929-7262","authenticated-orcid":false,"given":"Jie","family":"Chen","sequence":"additional","affiliation":[{"name":"Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,20]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2010.01.034"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1380-6"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-015-0070-y"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3181acaeae"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2016-215252"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.21037\/tp-24-97"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-020-1999-0"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2008.05.036"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.5009\/gnl.2010.4.3.407"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328331de38"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.01.009"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.5935\/1676-2444.20140021"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000106"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000629"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCG.0000000000000739"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.914"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a002055"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.4103\/1319-3767.203359"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23688"},{"issue":"8","key":"e_1_2_12_21_1","first-page":"618","article-title":"Congenital Tufting Enteropathy Caused by Mutation of EPCAM gene: A Case Report and Review of Literature","volume":"36","author":"Yuan C.","year":"2018","journal-title":"Journal of Clinical Pediatrics"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.5114\/aoms\/155185"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v8.i20.4975"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104023"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01995-y"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-021-03844-z"},{"issue":"3","key":"e_1_2_12_27_1","first-page":"493","article-title":"A Case of Congenital Tufting Enteropathy With EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)","volume":"53","author":"Yang M.","year":"2022","journal-title":"Sichuan Da Xue Xue Bao. Yi Xue Ban"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2022.25.6.441"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics11020262"},{"key":"e_1_2_12_30_1","first-page":"6","article-title":"Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families","volume":"8","author":"Ayyildiz Civan H.","year":"2021","journal-title":"Children (Basel)"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics10100786"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/TP.0000000000003065"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14702","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T06:27:34Z","timestamp":1762928854000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,20]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/cge.14702"],"URL":"https:\/\/doi.org\/10.1111\/cge.14702","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14702\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14702\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14702\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14702\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14702\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14702\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14702\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14702\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,20]]},"assertion":[{"value":"2024-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}