In a 7-year-old boy with normal hearing suffering from repeated syncope an extremely prolonged QTc interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QTc interval (maximum 470 ms) but no symptoms. In the proband a mutation analysis of KCNQ1 gene revealed a homozygous 1893insC mutation. The parents were heterozygous for this mutation. There was no consanguineous marriage in the family. The clinical relevance of these findings is that apparently normal individuals may have a latent reduction of repolarizing currents, a "reduced repolarization reserve," because they are carriers of latent ion channel genes mutations.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1540-8159.2006.00478.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A genome-wide association study identified candidate regions and genes for commercial traits in a Landrace population.
Front Genet
January 2025
Breeding Department, Wuhan COFCO Meat Co., Ltd., Wuhan, Hubei, China.
Backfat thickness (BFT) and feed conversion ratio (FCR) are important commercial traits in the pig industry. With the increasing demand for human health and meat production, identifying functional genomic regions and genes associated with these commercial traits is critical for enhancing production efficiency. In this research, we conducted a genome-wide association study (GWAS) on a Landrace population comprising 4,295 individuals with chip data for BFT and FCR.
View Article and Find Full Text PDFK7 channels modulate tension and calcium signalling in mouse corpus cavernosum.
Am J Physiol Cell Physiol
January 2025
Smooth Muscle Research Centre, Dundalk Institute of Technology, Dundalk, Ireland.
Adrenergic stimulation induces contractions in the corpus cavernosum smooth muscle (CCSM) that are important in maintaining penile flaccidity. The aim of this study was to investigate the role of K7 channels in regulating contractions and their underlying Ca signals in mouse CCSM. Quantitative PCR revealed transcriptional expression of KCNQ1 and KCNQ3-5 genes in whole CCSM, with KCNQ5 as the most highly transcribed K7 encoding gene.
View Article and Find Full Text PDFUnmasking Long QT Syndrome in a Serviceman: Effects of Hypoglycemia and a Flight Duty Medical Examination.
Mil Med
January 2025
Division of Endocrinology, Diabetes and Metabolism, University of California Davis Health, Sacramento, CA 95817, USA.
We report the case of a 29-year-old male soldier with a time in service above 10 years, found to have asymptomatic long QT syndrome (LQTS), a condition associated with increased risk of potentially fatal ventricular arrhythmias, during a flight physical. A review of his past medical history revealed a transient QT prolongation during an episode of hypoglycemia due to endogenous hyperinsulinism caused by an insulinoma, as an infantryman 7 years earlier; the resolution of the QT prolongation was spontaneous. He was evaluated and considered fit for duty by cardiology.
View Article and Find Full Text PDFCongenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1.
Horm Res Paediatr
January 2025
Division of Endocrinology and Diabetes, Congenital Hyperinsulinism Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Introduction: This is a report of a child with congenital hyperinsulinism associated with a loss-of-function variant in KCNE1. KCNE1 encodes a human potassium channel accessory (beta) subunit that modulates potassium channel Kv7.1 (encoded by KCNQ1).
View Article and Find Full Text PDFHaplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.
Mol Genet Genomics
December 2024
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450052, Henan, China.
Given the high morbidity, mortality, and hereditary risk of cardiovascular diseases (CVDs), their prevention and control have garnered widespread attention and remain central to clinical research. This study aims to assess the feasibility and necessity of haplotyping-based preimplantation genetic testing for the prevention of inherited CVD. A total of 15 preimplantation genetic testing for monogenic defect (PGT-M) cycles were performed in 12 CVD families from January 2016 to July 2022.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!