{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Potter AS"],"funding":["NICHD NIH HHS","NHLBI NIH HHS","NHGRI NIH HHS"],"pagination":["e004614"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11335451"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(4)"],"pubmed_abstract":["<h4>Background</h4>Accessory pathways are a common cause of supraventricular tachycardia (SVT) and can lead to sudden cardiac death in otherwise healthy children and adults when associated with Wolff-Parkinson-White syndrome. The goal of this study was to identify genetic variants within a large family with structurally normal hearts affected by SVT and Wolff-Parkinson-White syndrome and determine causality of the gene deficit in a corresponding mouse model.<h4>Methods</h4>Whole exome sequencing performed on 2 distant members of a 3-generation family in which multiple members were affected by SVT or Wolff-Parkinson-White pattern (preexcitation) on ECG identified <i>MRC2</i> as a candidate gene. Serial electrocardiograms, intracardiac electrophysiology studies, echocardiography, optical map"],"journal":["Circulation. Genomic and precision medicine"],"pubmed_title":["Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome."],"pmcid":["PMC11335451"],"funding_grant_id":["UM1 HG006348","R01 HL153350","UM1 HG006542","K23 HL136932","P50 HD103555","R01 HL160992","R01 HL089598"],"pubmed_authors":["Gonzaga-Jauregui C","Moreira LM","Mehta N","Wehrens XHT","Miyake CY","Lahiri SK","Azamian MS","Potter AS","Reilly S","Hulsurkar MM","Lalani SR","Aguilar-Sanchez Y","Lupski JR"],"additional_accession":[]},"is_claimable":false,"name":"Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome.","description":"<h4>Background</h4>Accessory pathways are a common cause of supraventricular tachycardia (SVT) and can lead to sudden cardiac death in otherwise healthy children and adults when associated with Wolff-Parkinson-White syndrome. The goal of this study was to identify genetic variants within a large family with structurally normal hearts affected by SVT and Wolff-Parkinson-White syndrome and determine causality of the gene deficit in a corresponding mouse model.<h4>Methods</h4>Whole exome sequencing performed on 2 distant members of a 3-generation family in which multiple members were affected by SVT or Wolff-Parkinson-White pattern (preexcitation) on ECG identified <i>MRC2</i> as a candidate gene. Serial electrocardiograms, intracardiac electrophysiology studies, echocardiography, optical map","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2026-03-16T06:42:41.703Z","creation":"2025-08-15T03:06:04.693Z"},"accession":"S-EPMC11335451","cross_references":{"pubmed":["38953222"],"doi":["10.1161/CIRCGEN.124.004614","10.1161/circgen.124.004614"]}}