title: Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China.
abstract: OBJECTIVE
  To study the clinical features, genetic etiology, and the correlation between phenotype and genotype of neonatal diabetes mellitus (NDM) in Chinese patients.
  
  
  METHODS
  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.
  
  
  RESULTS
  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 INS, EIF2AK3 (n = 2), GLIS3, and SLC19A2, one known EIF2AK3 mutation. There are two ABCC8 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%, P = 0.41).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Bingyan
authors.initials: B
authors.lastname: Cao
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Chunxiu
authors.initials: C
authors.lastname: Gong
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Di
authors.initials: D
authors.lastname: Wu
authors.affiliation: Institute of Basic Medical Sciences, Peking Union Medical College, Beijing 100730, China.
authors.forename: Chaoxia
authors.initials: C
authors.lastname: Lu
authors.affiliation: Institute of Basic Medical Sciences, Peking Union Medical College, Beijing 100730, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.affiliation: Department of Endocrinology and Genetic Metabolism, Zhengzhou Children's Hospital, Zhengzhou 450053, China.
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Endocrinology and Genetic Metabolism, Zhengzhou Children's Hospital, Zhengzhou 450053, China.
authors.forename: Yingxian
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Gu
authors.affiliation: Department of Pediatrics, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Zhan
authors.initials: Z
authors.lastname: Qi
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Xiaoqiao
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Min
authors.initials: M
authors.lastname: Liu
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Wenjing
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Su
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
authors.forename: Xuejun
authors.initials: X
authors.lastname: Liang
authors.affiliation: Department of Endocrinology, Shanxi Children's Hospital, Taiyuan 030013, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Feng
mesh_terms: D001786:Blood Glucose / Q000378:metabolism; D002681:China; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D005905:Glyburide / Q000378:metabolism / Q000627:therapeutic use; D006442:Glycated Hemoglobin / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007328:Insulin / Q000378:metabolism / Q000627:therapeutic use; D054086:KATP Channels / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D011379:Prognosis
chemical_list: D001786:Blood Glucose; D005905:Glyburide; D006442:Glycated Hemoglobin; D007004:Hypoglycemic Agents; D007328:Insulin; D054086:KATP Channels; C517652:hemoglobin A1c protein, human
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