{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:09:58Z","timestamp":1777370998053,"version":"3.51.4"},"reference-count":25,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Diabetes Research"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p><jats:italic>Aims.<\/jats:italic>To study the clinical features, genetic etiology, and the correlation between phenotype and genotype of neonatal diabetes mellitus (NDM) in Chinese patients.<jats:italic>Methods.<\/jats:italic>We reviewed the medical records of 25 NDM patients along with their follow-up details. Molecular genetic analysis was performed. We compared the HbA1c levels between PNDM group and infantile-onset T1DM patients.<jats:italic>Results.<\/jats:italic>Of 25 NDM patients, 18 (72.0%) were PNDM and 7 (28.0%) were TNDM. Among 18 PNDM cases, 6 (33.3%) had known KATP channel mutations (KATP-PNDM). There were six non-KATP mutations, five novel mutations, including<jats:italic>INS<\/jats:italic>,<jats:italic>EIF2AK3<\/jats:italic>(<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi>n<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn mathvariant=\"normal\">2<\/mml:mn><\/mml:math>),<jats:italic>GLIS3<\/jats:italic>, and<jats:italic>SLC19A2<\/jats:italic>, one known<jats:italic>EIF2AK3<\/jats:italic>mutation. There are two<jats:italic>ABCC8<\/jats:italic>mutations in TNDM cases and one paternal UPD6q24. Five of the six KATP-PNDM patients were tried for glyburide transition, and 3 were successfully switched to glyburide. Mean HbA1c of PNDM was not significantly different from infantile onset T1DM (7.2% versus 7.4%,<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi>P<\/mml:mi><mml:mo>=<\/mml:mo><mml:mn mathvariant=\"normal\">0.41<\/mml:mn><\/mml:math>).<jats:italic>Conclusion.<\/jats:italic>PNDM accounted for 72% of NDM patients. About one-third of PNDM and TNDM patients had KATP mutations. The genetic etiology could be determined in 50% of PNDM and 43% of TNDM cases. PNDM patients achieved good glycemic control with insulin or glyburide therapy. The etiology of NDM suggests polygenic inheritance.<\/jats:p>","DOI":"10.1155\/2016\/6314368","type":"journal-article","created":{"date-parts":[[2015,12,29]],"date-time":"2015-12-29T21:03:53Z","timestamp":1451423033000},"page":"1-9","source":"Crossref","is-referenced-by-count":30,"title":["Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China"],"prefix":"10.1155","volume":"2016","author":[{"given":"Bingyan","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunxiu","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaoxia","family":"Lu","sequence":"additional","affiliation":[{"name":"Institute of Basic Medical Sciences, Peking Union Medical College, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Basic Medical Sciences, Peking Union Medical College, Beijing 100730, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojing","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Genetic Metabolism, Zhengzhou Children\u2019s Hospital, Zhengzhou 450053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingxian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Genetic Metabolism, Zhengzhou Children\u2019s Hospital, Zhengzhou 450053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhan","family":"Qi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqiao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuejun","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children\u2019s Hospital, Capital Medical University, Beijing 100045, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shanxi Children\u2019s Hospital, Taiyuan 030013, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","first-page":"389","volume-title":"Genetic disorders of the pancreatic beta cell and diabetes (permanent neonatal diabetes and maturity-onset diabetes of the 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