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Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
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- Author(s): Ding Y;Ding Y; Li N; Li N; Lou D; Lou D; Zhang Q; Zhang Q; Chang G; Chang G; Li J; Li J; Li X; Li X; Li Q; Li Q; Huang X; Huang X; Wang J; Wang J; Jiang F; Jiang F; Wang X; Wang X
- Source:
Journal of diabetes investigation [J Diabetes Investig] 2021 Jan; Vol. 12 (1), pp. 48-62. Date of Electronic Publication: 2020 Jul 23.- Publication Type:
Journal Article- Language:
English - Source:
- Additional Information
- Source: Publisher: Asian Association for the Study of Diabetes and Blackwell Pub. Asia Country of Publication: Japan NLM ID: 101520702 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2040-1124 (Electronic) Linking ISSN: 20401116 NLM ISO Abbreviation: J Diabetes Investig Subsets: MEDLINE
- Publication Information: Original Publication: Tokyo : Asian Association for the Study of Diabetes and Blackwell Pub. Asia
- Subject Terms: Mutation*; Asian People/*genetics ; Biomarkers/*analysis ; Diabetes Mellitus, Type 2/*epidemiology ; Genetic Testing/*methods ; High-Throughput Nucleotide Sequencing/*methods ; Hyperglycemia/*epidemiology; Adolescent ; Blood Glucose/analysis ; Child ; Child, Preschool ; China/epidemiology ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/pathology ; Female ; Follow-Up Studies ; Glycated Hemoglobin/analysis ; Humans ; Hyperglycemia/genetics ; Hyperglycemia/pathology ; Infant ; Male ; Prognosis
- Abstract: Aims/introduction: To investigate the genetic etiology and evaluate the diagnostic application of next-generation sequencing for diabetes/persistent hyperglycemia in children and adolescents.
Materials and Methods: Patients with diabetes/persistent hyperglycemia, presenting with at least one other clinical manifestation (other than diabetes) or with a family history of diabetes, were recruited. The clinical and laboratory characteristics of the patients were recorded. Next-generation sequencing was carried out, and candidate variants were verified by Sanger sequencing. Variant pathogenicity was further evaluated according to the American College of Medical Genetics and Genomics guidelines.
Results: This study included 101 potential probands, 36 of whom were identified as positive by genetic testing. A further 51.2 and 20.9% of variants were determined to be pathogenic or likely pathogenic, respectively. Variants associated with the disease were primarily identified in 21 genes and three regions of copy number variants. Among the 39 variants in 21 genes, 61.5% (24/39) were novel. The genetic diagnosis of 23 patients was confirmed based on genetic evidence and associated clinical manifestations. We reported GCK variants (21.7%, 5/23) as the most common etiology in our cohort. Different clinical manifestations were observed in one family with WFS1 variants.
Conclusions: Our findings support the use of next-generation sequencing as a standard method in patients with diabetes/persistent hyperglycemia and provide insights into the etiologies of these conditions.
(© 2020 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.) - References: Genet Med. 2018 Sep;20(9):1045-1053. (PMID: 29095814)
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J Diabetes Investig. 2021 Jan;12(1):48-62. (PMID: 32531870)
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Genet Med. 2016 Nov;18(11):1090-1096. (PMID: 26938784) - Grant Information: 8190072 National Natural Science Foundation of China; 81370930 National Natural Science Foundation of China; PEGRF201506011 Shanghai Children's Medical Center Research Project; YG2016QN39 Cross Research Fund for Medical Engineering of Shanghai Jiao Tong University; 2016YFC1305203 National Science and Technology Commission
- Contributed Indexing: Keywords: Diabetes mellitus; Genetic etiology; Next-generation sequencing
- Accession Number: 0 (Biomarkers)
0 (Blood Glucose)
0 (Glycated Hemoglobin A)
0 (hemoglobin A1c protein, human) - Publication Date: Date Created: 20200613 Date Completed: 20211004 Latest Revision: 20221207
- Publication Date: 20221213
- Accession Number: PMC7779271
- Accession Number: 10.1111/jdi.13322
- Accession Number: 32531870
- Source:
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