{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T12:11:32Z","timestamp":1778155892808,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T00:00:00Z","timestamp":1765497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T00:00:00Z","timestamp":1765497600000},"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."],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin\/kexin type 1 (\n                    <jats:italic>PCSK1)<\/jats:italic>\n                    deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18\u2010day\u2010old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic acidosis, and failure to thrive. Genetic analysis identified a novel homozygous c.709+1\u2009G\u2009&gt;\u2009A splicing mutation in\n                    <jats:italic>PCSK1<\/jats:italic>\n                    , predicted to disrupt protein function. Rapid genetic diagnosis enabled timely endocrine assessment and guided nutritional management, minimizing invasive procedures. Expanding the\n                    <jats:italic>PCSK1<\/jats:italic>\n                    mutational spectrum, this case highlights the pivotal role of next\u2010generation sequencing in neonates with refractory diarrhea and suggestive clinical history, facilitating early intervention and improved outcomes.\n                  <\/jats:p>","DOI":"10.1002\/jpr3.70127","type":"journal-article","created":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:30:06Z","timestamp":1765546206000},"page":"242-246","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8103-5417","authenticated-orcid":false,"given":"Eleonora","family":"Saraceno","sequence":"first","affiliation":[{"name":"Department of Public Health and Pediatrics Postgraduate School of Pediatrics, Regina Margherita Children Hospital, University of Turin Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo Corso","family":"Faini","sequence":"additional","affiliation":[{"name":"Immunogenetic and Transplant Biology Unit Regina Margherita Children Hospital, AOU Citt\u00e0 della Salute e della Scienza di Torino Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Deaglio","sequence":"additional","affiliation":[{"name":"Immunogenetic and Transplant Biology Unit Regina Margherita Children Hospital, AOU Citt\u00e0 della Salute e della Scienza di Torino Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianna","family":"Pellegrini","sequence":"additional","affiliation":[{"name":"Clinical Nutrition and Dietetics Unit Regina Margherita Children Hospital, AOU Citt\u00e0 della Salute e della Scienza di Torino Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Buganza","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit Regina Margherita Children Hospital, AOU Citt\u00e0 della Salute e della Scienza di Torino Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Giuliani","sequence":"additional","affiliation":[{"name":"Neonatal Special Care Unit Regina Margherita Children Hospital, AOU Citt\u00e0 della Salute e della Scienza di Torino Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pier Luigi","family":"Calvo","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Unit Regina Margherita Children Hospital, Azienda Ospedaliera\u2010Universitaria Citt\u00e0 della Salute e della Scienza di Torino Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Pinon","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Unit Regina Margherita Children Hospital, Azienda Ospedaliera\u2010Universitaria Citt\u00e0 della Salute e della Scienza di Torino Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.03.067"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12050710"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-022-02501-5"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-2210"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.802351"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000542"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14638"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCG.0b013e31827356e1"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021761"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/87551225221116010"}],"container-title":["JPGN 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