Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population
Joint Authors
Limprasert, Pornprot
Puangpetch, Apichaya
Sukasem, Chonlaphat
Thongnak, Chuphong
Tangviriyapaiboon, Duangkamol
Silvilairat, Suchaya
Pasomsub, Ekawat
Chantratita, Wasan
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-11-28
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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 from a family consisting of five family members in three generations in which one of three children in generation III had complete heart block.
Whole exome sequencing was performed on one complete heart block affected child and one unaffected sibling.
Bioinformatics was used to identify annotated and filtered variants.
Candidate variants were validated and the segregation analysis of other family members was performed.
Results.
This study identified compound heterozygous variants, c.101G>A and c.3832G>A, in the SCN5A gene and c.28730C>T in the TTN gene.
Conclusions.
Compound heterozygous variants in the SCN5A gene were found in the complete heart block affected child but these two variants were found only in the this affected sibling and were not found in other unaffected family members.
Hence, these variants in the SCN5A gene were the most possible disease-causing variants in this family.
American Psychological Association (APA)
Thongnak, Chuphong& Limprasert, Pornprot& Tangviriyapaiboon, Duangkamol& Silvilairat, Suchaya& Puangpetch, Apichaya& Pasomsub, Ekawat…[et al.]. 2016. Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Disease Markers،Vol. 2016, no. 2016, pp.1-10.
https://search.emarefa.net/detail/BIM-1103691
Modern Language Association (MLA)
Thongnak, Chuphong…[et al.]. Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Disease Markers No. 2016 (2016), pp.1-10.
https://search.emarefa.net/detail/BIM-1103691
American Medical Association (AMA)
Thongnak, Chuphong& Limprasert, Pornprot& Tangviriyapaiboon, Duangkamol& Silvilairat, Suchaya& Puangpetch, Apichaya& Pasomsub, Ekawat…[et al.]. Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Disease Markers. 2016. Vol. 2016, no. 2016, pp.1-10.
https://search.emarefa.net/detail/BIM-1103691
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1103691