{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T04:30:32Z","timestamp":1771648232661,"version":"3.50.1"},"reference-count":52,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2018-0446_s_999\"><jats:title id=\"d3356547e16737\">Background<\/jats:title><jats:p>To investigate the clinical and molecular characteristics of Chinese children with maturity onset diabetes of the young (MODY).<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0446_s_998\"><jats:title id=\"d3356547e16745\">Methods<\/jats:title><jats:p>A total of 42 Chinese patients suspected MODY referred to our unit from 2014 to 2018 were enrolled. Mutational analysis of monogenic diabetes mellitus genes was performed by next-generation sequencing and confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0446_s_997\"><jats:title id=\"d3356547e16753\">Results<\/jats:title><jats:p>There were 28 males (66.7%) and 14 females (33.3%) with a mean age of 9.49\u2009\u00b1\u20093.46 years (range, 1.4\u201315.3 years) and a mean birth weight of 3.38\u2009\u00b1\u20090.49 kg (range, 2.55\u20134.90 kg). Among these patients, 15 patients had polyuria, polydipsia or weight loss. Two patients (4.8%) were obese and six (14.3%) were overweight. Moreover, 13 patients (30.9%) had a family history of diabetes. Thirty variants were identified in 28 patients. Twenty-six variants in 25 patients were pathogenic or likely pathogenic genes (59.5%, 25\/42), including 15 patients (60.0%, 15\/25) with<jats:italic>GCK<\/jats:italic>mutation, four (16.0%, 4\/25) with<jats:italic>PAX4<\/jats:italic>mutation, three (12.0%, 3\/25) with<jats:italic>HNF4A<\/jats:italic>mutation, one (4.0%, 1\/25) with<jats:italic>INS<\/jats:italic>mutation, one (4.0%, 1\/25) with<jats:italic>NEUROD1<\/jats:italic>mutation and one (4.0%, 1\/25) with<jats:italic>HNF1A<\/jats:italic>mutation. Nine mutations (36.0%, 9\/25) were novel. There was no difference between mutation-suspected patients and MODY-confirmed patients except for a 2-h glucose increment in an oral glucose tolerance test (OGTT), while the<jats:italic>GCK<\/jats:italic>-MODY had lower glycated hemoglobin (HbA<jats:sub>1c<\/jats:sub>) and a significantly smaller 2-h glucose increment in an OGTT compared with transcription factor MODYs. The<jats:italic>GCK<\/jats:italic>-MODY was identified by incidental hyperglycemia without glycosuria.<jats:italic>GCK<\/jats:italic>-MODY without drug management and hepatocyte nuclear factor-1 alpha (<jats:italic>HNF4A<\/jats:italic>) or<jats:italic>HNF1A<\/jats:italic>-MODY with sulfonylurea therapy obtained good glucose controlling.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0446_s_996\"><jats:title id=\"d3356547e16799\">Conclusions<\/jats:title><jats:p>Mutation of the<jats:italic>GCK<\/jats:italic>gene is the most common in MODY patients in China followed by<jats:italic>PAX4<\/jats:italic>. The screening criteria can improve the cost-effectiveness of disease diagnosis and treatment. A precise molecular diagnosis would lead to optimal treatment of the patients.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0446","type":"journal-article","created":{"date-parts":[[2019,6,19]],"date-time":"2019-06-19T09:03:31Z","timestamp":1560935011000},"page":"759-765","source":"Crossref","is-referenced-by-count":21,"title":["Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes"],"prefix":"10.1515","volume":"32","author":[{"given":"Zhu","family":"Ming-Qiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dai","family":"Yang-Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huang","family":"Ke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wu","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu","family":"Jun-Fen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zou","family":"Chao-Chun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong","family":"Guan-Ping","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref71","first-page":"251","article-title":"Maturity-onset 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(GCK-MODY)","volume":"18","year":"2018","journal-title":"BMC Pediatr"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1007\/s00125-017-4226-2","article-title":"Precision diabetes: learning from monogenic diabetes","volume":"60","year":"2017","journal-title":"Diabetologia"},{"key":"ref41","first-page":"47","article-title":"ISPAD Clinical Practice Consensus Guidelines 2014. 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