Novel mutations of KCNQ1 in Long QT syndrome.
| Autor: | Qureshi SF; Dept. of Genetics, University College of Science, Osmania University, Hyderabad 500007, Andhra Pradesh, India., Ali A, Ananthapur V, Jayakrishnan MP, Calambur N, Thangaraj K, Nallari P |
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| Jazyk: | angličtina |
| Zdroj: | Indian heart journal [Indian Heart J] 2013 Sep-Oct; Vol. 65 (5), pp. 552-60. Date of Electronic Publication: 2013 Sep 04. |
| DOI: | 10.1016/j.ihj.2013.08.025 |
| Abstrakt: | 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. (Copyright © 2013 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.) |
| Databáze: | MEDLINE |
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