{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T16:08:18Z","timestamp":1775578098989,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:00:00Z","timestamp":1725494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glucagon\u2010like peptide\u20102 (GLP2) acts on the GLP2 receptor (GLP2R) and plays a role in intestinal growth and adaptation. The endogenous actions of GLP2R do not have an established association with human disease, although mouse\u2010knockout models in a stressed state show enhanced susceptibility to small bowel injury, increased morbidity, mortality, and abnormal host\u2013bacterial interactions. We report an 11\u2010month\u2010old female with multiple intensive care unit admissions for severe metabolic acidosis due to profuse nonbloody diarrhea in the context of various infections. She had normal growth, lab testing, and stooling patterns between illnesses. Trio\u2010whole genome sequencing revealed homozygous nonsense variants resulting in nonfunctional GLP2R. This is the first known human documented with a GLP2R\u2010deficient phenotype, resulting in clinical illness, which correlates with the findings in the GLP2R mouse knockout model and furthers our understanding of GLP2R and the action of teduglutide, a GLP2 analog used for the treatment of short bowel syndrome.<\/jats:p>","DOI":"10.1002\/jpr3.12125","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T07:31:04Z","timestamp":1725521464000},"page":"488-490","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel homozygous nonsense mutation in glucagon\u2010like peptide\u20102 receptor gene resulting in severe human illness"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-4014-8401","authenticated-orcid":false,"given":"Claire","family":"Jaramishian","sequence":"first","affiliation":[{"name":"Pediatric Residency Program Valley Children's Healthcare Madera California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9790-8223","authenticated-orcid":false,"given":"Shivani","family":"Kamal","sequence":"additional","affiliation":[{"name":"Pediatric Residency Program Valley Children's Healthcare Madera California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7192-0504","authenticated-orcid":false,"given":"Mart\u00edn G.","family":"Mart\u00edn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital and the David Geffen School of Medicine University of California Los Angeles Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6895-9355","authenticated-orcid":false,"given":"Nathan Zev","family":"Minkoff","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology &amp; Nutrition Valley Children's Healthcare Madera California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnut.2021.688715"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-017-0703-7"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2019-00398"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2011-1954"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.03.067"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/microorganisms10102061"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.12125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T12:29:37Z","timestamp":1732710577000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpr3.12125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,5]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/jpr3.12125"],"URL":"https:\/\/doi.org\/10.1002\/jpr3.12125","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"value":"2691-171X","type":"print"},{"value":"2691-171X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,5]]},"assertion":[{"value":"2023-12-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}