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Article

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Disease markers - 1 Jan 2016

Thongnak Chuphong, Limprasert Pornprot, Tangviriyapaiboon Duangkamol, Silvilairat Suchaya, Puangpetch Apichaya, Pasomsub Ekawat, Sukasem Chonlaphat, Chantratita Wasun

Abstract excerpt

Background. Congenital heart block is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles. This blockage can be caused by ion channel impairment that is the result of genetic variation. This study aimed to investigate the possible causative variants in a Thai family with complete heart block by using whole exome sequencing. Methods. Genomic DNA was collected...

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Identifiers

PMID: 28018021
DOI: 10.1155/2016/3684965
PMCID: PMC5149683

Genes

TTN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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