Format

Send to

Choose Destination
Indian Heart J. 2013 Sep-Oct;65(5):552-60. doi: 10.1016/j.ihj.2013.08.025. Epub 2013 Sep 4.

Novel mutations of KCNQ1 in Long QT syndrome.

Author information

1
Dept. of Genetics, University College of Science, Osmania University, Hyderabad 500007, Andhra Pradesh, India.

Abstract

BACKGROUND:

Autosomal recessive Long QT syndrome is characterized by prolonged QTc along with congenital bilateral deafness depends on mutations in K(+) channel genes. A family of a Long QT syndrome proband from India has been identified with novel indel variations.

METHODS:

The molecular study of the proband revealed 4 novel indel variations in KCNQ1. In-silico analysis revealed the intronic variations has led to a change in the secondary structure of mRNA and splice site variations. The exonic variations leads to frameshift mutations. DNA analysis of the available family members revealed a carrier status.

RESULTS AND CONCLUSION:

It is thus predicted that the variations may lead to a change in the position of the splicing enhancer/inhibitor in KCNQ1 leading to the formation of a truncated S2-S3 fragment of KCNQ1 transmembrane protein in cardiac cells as well as epithelial cells of inner ear leading to deafness and aberrant repolarization causing prolonged QTc.

KEYWORDS:

3D KCNQ1 structure; Family study; JLN syndrome; Long QT syndrome; Novel mutations

PMID:
24206879
PMCID:
PMC3861163
DOI:
10.1016/j.ihj.2013.08.025
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center