{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T07:48:08Z","timestamp":1792136888037,"version":"4.4.0"},"reference-count":8,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Proline and glutamate\u2010rich protein with a coiled coil domain 1 (PERCC1)\u2010associated enteropathy is a rare monogenic congenital diarrhea due to defective enteroendocrine cells (EECs). We describe a 6\u2010year\u2010old female with intestinal failure since birth. Biopsies demonstrated normal appearing gastric mucosa on hematoxylin and eosin stains. Commercial whole\u2010exome sequencing did not reveal clinically relevant variants. Subsequent testing, prompted by undetectable serum Gastrin, identified compound heterozygous variants in PERCC1: c.390\u2009C\u2009&gt;\u2009G (Y130X) and a novel c.492del (S164RfsX33) variant. Hormonal profiling showed low endogenous glucagon\u2010like peptide (GLP)\u20101 and \u20102 levels, pre and postprandial. Immunohistochemistry showed a markedly reduced density of Gastrin containing G\u2010cells and preserved EEC. At 5.5 years, endogenous GLP\u20102 deficiency supported off\u2010label Teduglutide therapy. Baseline Parenteral Nutrition Dependency Index (PNDI) was 67%; after 16 months, PNDI decreased to 35%, with improved stool output and appetite. Congenital diarrhea with low serum levels of Gastrin, GLP\u20101, and \u20102 and abnormal G\u2010cell staining should prompt targeted genetic analysis for PERCC1 with whole genome sequencing. Timely diagnosis enables Teduglutide therapy and parenteral nutrition weaning.<\/jats:p>","DOI":"10.1002\/jpr3.70259","type":"journal-article","created":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T07:05:06Z","timestamp":1792134306000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate\u2010rich protein with a coiled coil domain 1 (PERCC1)\u00a0associated enteropathy: New diagnostic and therapeutic insights"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3594-3896","authenticated-orcid":false,"given":"Teresa","family":"Di Chio","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"Transplant and Regenerative Medicine Centre, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8013-2350","authenticated-orcid":false,"given":"Daniela","family":"Gattini","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"Transplant and Regenerative Medicine Centre, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6917-295X","authenticated-orcid":false,"given":"Christina","family":"Belza","sequence":"additional","affiliation":[{"name":"Transplant and Regenerative Medicine Centre, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4237-8207","authenticated-orcid":false,"given":"Iram","family":"Siddiqui","sequence":"additional","affiliation":[{"name":"Department of Pathology The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8509-2036","authenticated-orcid":false,"given":"Bolette","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7925-3160","authenticated-orcid":false,"given":"Meghan Zoe","family":"Benchimol","sequence":"additional","affiliation":[{"name":"SickKids Inflammatory Bowel Disease Centre, Cell Biology Program, Research Institute The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0811-8728","authenticated-orcid":false,"given":"Shiqi","family":"Zhang","sequence":"additional","affiliation":[{"name":"SickKids Inflammatory Bowel Disease Centre, Cell Biology Program, Research Institute The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9207-5979","authenticated-orcid":false,"given":"Neil E.","family":"Warner","sequence":"additional","affiliation":[{"name":"SickKids Inflammatory Bowel Disease Centre, Cell Biology Program, Research Institute The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9624-3346","authenticated-orcid":false,"given":"Aleixo M.","family":"Muise","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"SickKids Inflammatory Bowel Disease Centre, Cell Biology Program, Research Institute The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8072-5727","authenticated-orcid":false,"given":"Yaron","family":"Avitzur","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"},{"name":"Transplant and Regenerative Medicine Centre, The Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"issue":"2","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1997.tb02428.x","article-title":"Congenital intractable diarrhea of infancy in Iraqi Jews","volume":"51","author":"Straussberg R","year":"1997","journal-title":"Clin Genet"},{"issue":"7763","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/s41586-019-1312-2","article-title":"Noncoding deletions reveal a gene that is critical for intestinal function","volume":"571","author":"Oz\u2010Levi D","year":"2019","journal-title":"Nature"},{"issue":"1","key":"e_1_2_9_4_1","doi-asserted-by":"crossref","DOI":"10.1093\/bioadv\/vbac008","article-title":"PERCC1, a new member of the Yap\/TAZ\/FAM181 transcriptional co\u2010regulator family","volume":"2","author":"Sanchez\u2010Pulido L","year":"2022","journal-title":"Bioinformat Adv"},{"issue":"5","key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1007\/s00439-022-02486-1","article-title":"Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy","volume":"142","author":"Marek\u2010Yagel D","year":"2023","journal-title":"Hum Genet"},{"issue":"8","key":"e_1_2_9_6_1","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.7326\/M24-0147","article-title":"Reversal of intestinal failure with teduglutide in PERCC1 \u2010associated enteropathy: a case report","volume":"177","author":"Stenke E","year":"2024","journal-title":"Ann Intern Med"},{"issue":"2","key":"e_1_2_9_7_1","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/jpr3.70144","article-title":"PERCC1\u2010associated enteropathy: diagnostic challenges and enteral autonomy achieved with teduglutide","volume":"7","author":"Tran A","year":"2026","journal-title":"JPGN Rep"},{"key":"e_1_2_9_8_1","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/s10038-026-01455-0","article-title":"Congenital diarrhea\/enteropathy due to a novel biallelic PERCC1 variant \u2013 a case\u2010based review and variant analysis","volume":"71","author":"Banday AZ","year":"2026","journal-title":"J Hum Genet"},{"issue":"1","key":"e_1_2_9_9_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1186\/s13059-020-02053-9","article-title":"Analysis of transcript\u2010deleterious variants in Mendelian disorders: implications for RNA\u2010based diagnostics","volume":"21","author":"Maddirevula S","year":"2020","journal-title":"Genome Biol"}],"container-title":["JPGN 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