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Date Published: 17/03/2023
Abstract Views: 264
Views PDF: 142
DOI: https://doi.org/10.51298/vmj.v524i1A.4691
Issue
Vol. 524 No. 1A (2023)
Section
Các bài báo
How to Cite
Đặng, D. P. ., Nguyễn, M. H. ., Trần , H. T. ., & Trần , V. K. . (2023). TWO PEDIGREES OF BRUGADA SYNDROME WITH PATHOGENIC MUTATIONS IN SCN5A GENE. Vietnam Medical Journal, 524(1A). https://doi.org/10.51298/vmj.v524i1A.4691

TWO PEDIGREES OF BRUGADA SYNDROME WITH PATHOGENIC MUTATIONS IN SCN5A GENE

Duy Phương Đặng1, Minh Hà Nguyễn2, Huy Thịnh Trần 1, Vân Khánh Trần 1,
1 Hanoi medical university
2 Pham Ngoc Thach University of Medicine

Main Article Content

Abstract

Introduction: Brugada syndrome (BrS) is an inherited cardiac arrhythmia that causes sudden death. Mutations in the SCN5A gene, which codes for the sodium channel, have been identified as a cause of Brugada syndrome. These are autosomal dominant inheritance. Genealogical research is one of the approaches to genetic diseases. Objectives: To describe the two pedigrees of BrS patients who had pathogenic mutations in SCN5A gene. Subjects and methods: The patients were diagnosed with BrS, have been identified as having a pathogenic SCN5A gene mutation and the patient's family members. Record the history and clinical features of everyone in the families. SCN5A gene mutation status was determined by Sanger gene sequencing technique. Using protein function prediction softwares to investigate the pathogenicity of the mutations. Results: Family 1 includes the patient and 4 members, having N109del mutation (pathogenic) in exon 3 and R1193Q mutation (benign) in exon 20. Family 2 includes the patient and 6 members, having R659W mutation (pathogenic) in exon 13.

Article Details

Keywords

Brugada syndrome, SCN5A gene, pedigree.

References

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