{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T13:11:58Z","timestamp":1783948318833,"version":"3.55.0"},"reference-count":33,"publisher":"Walter de Gruyter GmbH","issue":"12","funder":[{"DOI":"10.13039\/501100002543","name":"Pusan National University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,16]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2020-0336_abs_001_w2aab3b7c49b1b6b1aab1c15b1Aa\"><jats:title>Objectives<\/jats:title><jats:p>Monogenic diabetes includes a group of heterogeneous diabetes types. We aimed to identify the frequency, clinical and molecular features of monogenic diabetes in a Korean pediatric cohort.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2020-0336_abs_002_w2aab3b7c49b1b6b1aab1c15b2Aa\"><jats:title>Methods<\/jats:title><jats:p>A retrospective cohort and multicenter study of Korean children suspected to have monogenic diabetes, managed by four pediatric endocrine centers in the southeast region of South Korea, from February 2016 to February 2020. We recruited 27 pediatric Korean patients suspected to have monogenic diabetes who had at least two of the following three criteria (age at diagnosis, family history, and clinical presentation). Targeted exome sequencing was conducted in these patients. The functional consequences of the variants were predicted by bioinformatics and protein structure analysis.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2020-0336_abs_003_w2aab3b7c49b1b6b1aab1c15b3Aa\"><jats:title>Results<\/jats:title><jats:p>Molecular genetic analysis identified 16 patients (59.3%) with monogenic diabetes. We identified a total of\u00a0eight unique variants, including five novel variants (<jats:italic>HNF4A<\/jats:italic>c.1088C&gt;T,<jats:italic>CEL<\/jats:italic>c.1627C&gt;T and c.1421C&gt;T,<jats:italic>PAX4<\/jats:italic>c.538+8G&gt;C,<jats:italic>INS<\/jats:italic>c.71C&gt;T). We also identified two potential candidate gene variants for monogenic diabetes, namely c.650T&gt;C in the<jats:italic>SLC2A2<\/jats:italic>gene and c.629G&gt;A in the<jats:italic>PTF1A<\/jats:italic>gene. Other variants were identified in the<jats:italic>WFS1<\/jats:italic>and<jats:italic>NPHP3<\/jats:italic>genes in two rare genetic disorders. Variant-positive individuals had a lower presence of autoantibody positivity at the time of diagnosis and higher glycosylated hemoglobin levels at last follow-up when compared to variant-negative patients (p&lt;0.001 and p=0.029, respectively).<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2020-0336_abs_004_w2aab3b7c49b1b6b1aab1c15b4Aa\"><jats:title>Conclusions<\/jats:title><jats:p>These results further expand the spectrum of known variants as well as potential candidate gene variants associated with monogenic diabetes in Korea.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2020-0336","type":"journal-article","created":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T23:48:48Z","timestamp":1602373728000},"page":"1539-1550","source":"Crossref","is-referenced-by-count":10,"title":["Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea"],"prefix":"10.1515","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8609-5826","authenticated-orcid":false,"given":"Chong Kun","family":"Cheon","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeoun Joo","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukdong","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Hee","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology , Pusan National University School of Medicine, Pusan National University Yangsan Hospital , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong Eun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Inje University Busan Paik Hospital , Busan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyun Ji","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Ilsin Christian Hospital , Busan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Im Jeong","family":"Choi","sequence":"additional","affiliation":[{"name":"Mirae Children\u2019s Hospital , Busan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeonsong","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering , School of Life Sciences, Ulsan National Institute of Science and Technology , Ulsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering , School of Life Sciences, Ulsan National Institute of Science and Technology , Ulsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ju Young","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Pusan National University Children\u2019s Hospital, Pusan National University School of Medicine , Yangsan , Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"key":"2023040101094814102_j_jpem-2020-0336_ref_001_w2aab3b7c49b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Harris, A, Naylor, RN. 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