ArticleAmerican journal of medical genetics. Part A2015
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.Journal of personalized medicine · 2026Article
- Genetics of supraventricular tachycardia: current evidence with a focus on translational relevance and personalized medicine.Frontiers in cardiovascular medicine · 2026Review
- Anatomy for ablation of atrioventricular nodal reentry tachycardia and accessory pathways.Herzschrittmachertherapie & Elektrophysiologie · 2022Review
- Significance of α-Myosin Heavy Chain (Journal of cardiovascular development and disease · 2022Article
- The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.Nature communications · 2021Article
- Expanding the phenotype of CACNA1C mutation disorders.Molecular genetics & genomic medicine · 2021Article
- Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.Frontiers in immunology · 2021Article
- Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.American journal of medical genetics. Part A · 2020Article
- SCSIM: Jointly simulating correlated single-cell and bulk next-generation DNA sequencing data.BMC bioinformatics · 2020Article
- ArrhythmoGenoPharmacoTherapy.Frontiers in pharmacology · 2020Review
- A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.European journal of human genetics : EJHG · 2019Article
- Article
- IDENTIFYING NEW SUDDEN DEATH GENES.Transactions of the American Clinical and Climatological Association · 2018Article
- Applications of the 1000 Genomes Project resources.Briefings in functional genomics · 2017Article
- The Human Phenotype Ontology in 2017.Nucleic acids research · 2017Review
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in KCNE2 previously associated with Long QT syndrome was also identified. Of these 11 variants, only MYH6 p.E1885K segregated with the WPW phenotype in all affected individuals and was absent in 10 unaffected family members. This variant was predicted to be damaging by in silico methods and is not present in the 1,000 genome and NHLBI exome sequencing project databases. Screening of a replication cohort of 47 unrelated WPW patients did not identify other likely causative variants in PRKAG2 or MYH6. MYH6 variants have been identified in patients with atrial septal defects, cardiomyopathies, and sick sinus syndrome. Our data highlight the pleiotropic nature of phenotypes associated with defects in this gene.
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