ArticleJournal of medical genetics2017
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- A New High Penetrant Intronic Pathogenic Variant Related to Long QT Syndrome Type 2.Journal of clinical medicine · 2025Article
- The multigenerational impact of long QT syndrome: A Gitxsan perspective.Journal of genetic counseling · 2025Article
- A mild phenotype associated withFrontiers in pediatrics · 2024Article
- Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.Orphanet journal of rare diseases · 2023Article
- Article
- A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.PLoS computational biology · 2020Article
- Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.Molecular genetics & genomic medicine · 2020Article
- Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts.Frontiers in public health · 2020Article
- Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.BMC medical genetics · 2017Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundVariable expressivity and incomplete penetrance between individuals with identical long QT syndrome (LQTS) causative mutations largely remain unexplained. Founder populations provide a unique opportunity to explore modifying genetic effects. We examined the role of a novel synonymous
methods419 adults were genotyped for p.V205M, p.L353L and a previously described QTc modifier (
resultsFor women and men, respectively, p.L353L alone conferred a 10.0 (p=0.064) ms and 14.0 (p=0.014) ms increase in QTc and in men only a significant interaction effect in combination with the p.V205M (34.6 ms, p=0.003) resulting in a QTc of ∼500 ms. The mechanism of p.L353L's effect was attributed to approximately threefold increase in exon 8 exclusion resulting in ∼25% mutant transcripts of the total
conclusionsOur results provide the first evidence that synonymous variants outside the canonical splice sites in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.