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Published: 2021-05-31
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DOI: https://doi.org/10.52852/tcncyh.v138i2.71
Issue
Vol. 138 No. 2 (2021)
Section
Các bài báo
How to Cite
Ngọc, C. T. B., & Dũng, V. C. (2021). Dominant heterozygous c.991t>c of the kcnj11 gene causes various phenotype of diabetes mellitus . Journal of Medical Research, 138(2), 49-54. https://doi.org/10.52852/tcncyh.v138i2.71

Dominant heterozygous c.991t>c of the kcnj11 gene causes various phenotype of diabetes mellitus

Cấn Thị Bích Ngọc, Vũ Chí Dũng

Main Article Content

Abstract

Activating mutations of the KCNJ11 gene, which encodes Kir6.2 (beta-cell adenosine triphosphate-sensitive potassium [KATP] channel subunit), have been associated with neonatal diabetes mellitus (NDM). Treatment with oral Sulfonylurea (SU) in place of exogenous insulin injections results in improved glycemic control in most patients carrying these mutations. Exploration of genetic causes of NDM occurring before 6 months of age has been proposed as an important issue in the identification of monogenic forms of diabetes, which might be critical in their therapeutic management. Three members with diabetes in one family were described: the proband (II.2), diagnosed at 62 days of age; his sibling (II.3), diagnosed at 13 months of age, and their father (I.2), diagnosed at 20 years of age. Analysis of coding and flanking intronic regions of the KCNJ11, INS and ABCC8 genes by Sanger sequencing was performed.


Three patients has heterozygous for the novel KCNJ11 missense variant, p.(Ser331Pro). Patient II.2 and II.3 had been transferred to SU from insulin with improved glycemic control. Patient I.2 has been treated with insulin due to refusal to switch to SU. This mutation in KCNJ11 cause diabetes mellitus in neonatal, childhood or adulthood.

Article Details

Keywords

diabetes mellitus, KCNJ11, Kir6.2, neonatal diabetes

References

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