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Date Published: 05/04/2024
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DOI: https://doi.org/10.51298/vmj.v537i1.9001
Issue
Vol. 537 No. 1 (2024)
Section
Các bài báo
How to Cite
Lê, T. P., Tạ, V. T., Bùi, T. B., Mai, X. D., & Trần, T. H. Y. (2024). ANALYSIS OF THE SLC25A13 GENE IN THE DIAGNOSIS OF CITRIN DEFICIENCY IN SOME CHILDREN WITH SUSPICION. Vietnam Medical Journal, 537(1). https://doi.org/10.51298/vmj.v537i1.9001

ANALYSIS OF THE SLC25A13 GENE IN THE DIAGNOSIS OF CITRIN DEFICIENCY IN SOME CHILDREN WITH SUSPICION

Thị Phương Lê, Văn Thạo Tạ, Thị Bảo Bùi, Xuân Dũng Mai, Thị Hải Yến Trần

Main Article Content

Abstract

Citrin deficiency in children is a disease associated with mutations in the SLC25A13 gene. In children, the disease is manifested in two age-dependent phenotypes: NICCD in neonatal and FTTDCD older than 1 year of age, which are associated with many changes in clinical, biochemical, liver tissue imaging, and metabolism. Analysis of the SLC25A13 gene is a useful tool that has been recognized as a reliable method for the definitive diagnosis of citrin deficiency. This study was conducted to identify mutations in the SLC25A13 gene by Sanger sequencing and analyze the mutant characteristics. The sample size consisted of 4 samples of patients that were screened for suspected citrin deficiency, and the results of sequencing found 1 mutation type I (c.851delGTAT (p.Met285ProfsTer2)) homozygous for both 4 samples, which is a frameshift variant that leads to premature truncation of the protein. With the Sanger sequencing technique, the study of analyzing the SLC25A13 gene in the diagnosis of citrin deficiency is extremely important in an early specific treatment, limiting complications, and reducing mortality in patients with cholestatic jaundice due to citrin deficiency, as well as a precondition for genetic counseling.

Article Details

Keywords

citrin deficiency, NICCD, FTTDCD, SLC25A13

References

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