Detection and analysis of glucose metabolism‑related genes in childhood diabetes using targeted next‑generation sequencing: In pediatric population‑a hospital‑based study

  • Authors:
    • Xiaoyan Wang
    • Fengyun Wang
    • Haiying Wu
    • Xiuli Chen
    • Rongrong Xie
    • Ting Chen
    • Hui Sun
    • Dandan Zhang
    • Linqi Chen
  • View Affiliations

  • Published online on: March 6, 2020     https://doi.org/10.3892/etm.2020.8579
  • Pages: 3398-3404
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Abstract

The aim of the present study was to explore the genetic causes of antibody‑negative diabetes and investigate its characteristics. A total of 64 patients with new‑onset diabetes (>6 m, <16 y) were identified and their initial clinical characteristics were analyzed. Of which, 32 cases with autoantibody‑negative diabetes (male, 16 cases; female, 16 cases) were screened for auto‑antibodies, including islet cell antibody, glutamic acid decarboxylase antibody and islet antigen‑2, which were negative, and fasting C‑peptide was ≥0.3 ng/ml. Peripheral blood DNA was extracted from the subjects and their parents for high‑throughput sequencing of glucose metabolism‑related genes. The group with the pathogenic variation was used as the experimental group. The control group comprised 32 cases of type 1 diabetes (T1D). Their baseline clinical characteristics were determined and statistically analyzed. Out of the 32 antibody‑negative diabetes cases, 21 had possible related mutations. There were 2 HNF1B missense mutations, 1 GCK missense mutation and 1 de novo KCNJ11 missense mutation. GCGR c.118G>A p.G40S was present in patients with type 2 DM (T2DM); the locus is associated with T2DM susceptibility in China. An LIPC frameshift mutation was identified, which had not been previously reported; the gene was found to markedly affect protein function and be associated with glucose and lipid metabolism. It was concluded that children with antibody‑negative T1D have monogenic diabetes. The present findings shed light on the etiology and mechanism of antibody‑negative diabetes, which will enable the comprehensive analysis of antibody‑negative diabetes genotypes and phenotypes and further help improved precision treatment.

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May 2020
Volume 19 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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APA
Wang, X., Wang, F., Wu, H., Chen, X., Xie, R., Chen, T. ... Chen, L. (2020). Detection and analysis of glucose metabolism‑related genes in childhood diabetes using targeted next‑generation sequencing: In pediatric population‑a hospital‑based study. Experimental and Therapeutic Medicine, 19, 3398-3404. https://doi.org/10.3892/etm.2020.8579
MLA
Wang, X., Wang, F., Wu, H., Chen, X., Xie, R., Chen, T., Sun, H., Zhang, D., Chen, L."Detection and analysis of glucose metabolism‑related genes in childhood diabetes using targeted next‑generation sequencing: In pediatric population‑a hospital‑based study". Experimental and Therapeutic Medicine 19.5 (2020): 3398-3404.
Chicago
Wang, X., Wang, F., Wu, H., Chen, X., Xie, R., Chen, T., Sun, H., Zhang, D., Chen, L."Detection and analysis of glucose metabolism‑related genes in childhood diabetes using targeted next‑generation sequencing: In pediatric population‑a hospital‑based study". Experimental and Therapeutic Medicine 19, no. 5 (2020): 3398-3404. https://doi.org/10.3892/etm.2020.8579