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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: Jul 4, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Long QT syndrome.

Ilan Goldenberg1, Arthur J Moss

  • 1Cardiology Division, Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642-8653, USA. Ilan.Goldenberg@heart.rochester.edu

Journal of the American College of Cardiology
|June 14, 2008
PubMed
Summary
This summary is machine-generated.

Hereditary Long QT Syndrome (LQTS) risk varies by age and mutation type. Continuous assessment and gene-specific therapies are crucial for preventing sudden cardiac death in affected individuals.

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Last Updated: Jul 4, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: September 16, 2019

Area of Science:

  • Cardiology
  • Genetics
  • Electrophysiology

Background:

  • Hereditary Long QT Syndrome (LQTS) is a genetic channelopathy causing syncope, ventricular tachycardia, and sudden death.
  • It's a significant cause of malignant arrhythmias and sudden cardiac death in young people with structurally normal hearts.

Purpose of the Study:

  • To analyze risk factors for cardiac arrest or death in LQTS patients across different age groups.
  • To explore how ion-channel mutation characteristics influence patient outcomes.
  • To inform improved risk stratification and the development of targeted therapies for LQTS.

Main Methods:

  • Analysis of data from the International LQTS Registry.
  • Stratification of risk factors by age groups (childhood, adolescence, adulthood, post-40).
  • Evaluation of biophysical function, type, and location of ion-channel mutations.

Main Results:

  • LQTS phenotypic expression is age-dependent and time-specific, necessitating ongoing risk assessment.
  • Ion-channel mutation characteristics are emerging as key determinants of clinical outcomes.
  • Risk assessment integrates electrocardiographic, clinical, and genetic factors.

Conclusions:

  • Continuous, age-specific risk assessment is vital for managing LQTS patients.
  • Understanding mutation specifics can refine risk stratification and guide gene-specific therapeutic development.
  • New data support personalized strategies to mitigate life-threatening cardiac events in LQTS.