{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T16:36:02Z","timestamp":1777480562279,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,3,24]],"date-time":"2015-03-24T00:00:00Z","timestamp":1427155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Excellent Young Teachers Program of Tongji University","award":["1501219070"],"award-info":[{"award-number":["1501219070"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Diabetes"],"published-print":{"date-parts":[[2015,11]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>The aim of the present study was to investigate the contribution of maturity\u2010onset diabetes of the young (MODY<\/jats:styled-content>) genes to the etiology of 14 C<\/jats:styled-content>hinese MODY<\/jats:styled-content> families and to assess phenotypic differences between patients with MODY<\/jats:styled-content> but without a known genetic cause of diabetes (MODYX<\/jats:styled-content>) and those with early onset type 2 diabetes (T2D<\/jats:styled-content>).<\/jats:p><\/jats:sec>Methods<\/jats:title>The study included 14 MODY<\/jats:styled-content> probands from unrelated families and 59 patients (age of onset \u226435 years) diagnosed as early onset T2D<\/jats:styled-content>. A standard meal test and metabolic studies were performed to characterize the clinical features of all patients. All probands with MODY<\/jats:styled-content> were analyzed for nucleotide variations in promoters, exons, and exon\u2013intron boundaries of 13 known MODY<\/jats:styled-content> genes by direct DNA<\/jats:styled-content> sequencing.<\/jats:p><\/jats:sec>Results<\/jats:title>Mutations in 13 known MODY<\/jats:styled-content> genes were not present in the 14 C<\/jats:styled-content>hinese families and they were classified as MODYX<\/jats:styled-content>. However, different polymorphisms were identified, with I27L (42.9%; 12\/28) and S487N (46.4%; 13\/28) of hepatocyte nuclear factor 4\u03b1<\/jats:italic> (HNF1\u03b1<\/jats:italic>\/MODY<\/jats:styled-content>3) being two most frequent polymorphisms. Two new polymorphisms, namely T412I and D504H, were detected in carboxyl ester lipase (CEL<\/jats:styled-content><\/jats:italic>\/MODY8<\/jats:styled-content>). Compared with patients with early onset T2D<\/jats:styled-content>, patients with MODYX<\/jats:styled-content> were diagnosed with diabetes at a younger age (28.3\u2009\u00b1\u20096.5 vs 24.3\u2009\u00b1\u20096.5 years; P<\/jats:italic>\u2009<\u20090.05) and had a lower body mass index (BMI<\/jats:styled-content>; 28.3\u2009\u00b1\u20096.1 vs 24.1\u2009\u00b1\u20094.3\u2009kg\/m2<\/jats:sup>; P<\/jats:italic>\u2009<\u20090.01) and homeostatic model assessment of \u03b2\u2010cell function (47.6 [22.2\u201389.4] vs 18.5 [6.5\u201333.7]; P<\/jats:italic>\u2009<\u20090.05).<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Herein we report on 14 C<\/jats:styled-content>hinese families with MODYX<\/jats:styled-content> and describe its phenotype. Compared with early onset T2D<\/jats:styled-content>, MODYX<\/jats:styled-content> is characterized by lower BMI<\/jats:styled-content> and decreased insulin\u2010secreting capacity.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1753-0407.12253","type":"journal-article","created":{"date-parts":[[2015,1,15]],"date-time":"2015-01-15T15:21:51Z","timestamp":1421335311000},"page":"858-863","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Molecular and phenotypic characteristics of maturity\u2010onset diabetes of the young compared with early onset type 2 diabetes in C<\/scp>hina"],"prefix":"10.1111","volume":"7","author":[{"given":"Manna","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao Jiao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjie","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunjun","family":"Sheng","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shen","family":"Qu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.168118"},{"key":"e_1_2_8_3_1","first-page":"234","article-title":"Maturity onset diabetes of the young: Clinical characteristics, diagnosis and management","volume":"10","author":"Kavvoura FK","year":"2012","journal-title":"Pediatr Endocrinol 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