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International Journal of Molecular Sciences
Article . 2015 . Peer-reviewed
License: CC BY
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Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

Authors: Oscar Campuzano; Olallo Sanchez-Molero; Irene Mademont-Soler; Helena Riuró; Catarina Allegue; Monica Coll; Alexandra Pérez-Serra; +4 Authors

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

Abstract

A leading cause of death in western countries is sudden cardiac death, and can be associated with genetic disease. Next-generation sequencing has allowed thorough analysis of genes associated with this entity, including, most recently, titin. We aimed to identify potentially pathogenic genetic variants in titin. A total of 1126 samples were analyzed using a custom sequencing panel including major genes related to sudden cardiac death. Our cohort was divided into three groups: 432 cases from patients with cardiomyopathies, 130 cases from patients with channelopathies, and 564 post-mortem samples from individuals showing anatomical healthy hearts and non-conclusive causes of death after comprehensive autopsy. None of the patients included had definite pathogenic variants in the genes analyzed by our custom cardio-panel. Retrospective analysis comparing the in-house database and available public databases also was performed. We identified 554 rare variants in titin, 282 of which were novel. Seven were previously reported as pathogenic. Of these 554 variants, 493 were missense variants, 233 of which were novel. Of all variants identified, 399 were unique and 155 were identified at least twice. No definite pathogenic variants were identified in any of genes analyzed. We identified rare, mostly novel, titin variants that seem to play a potentially pathogenic role in sudden cardiac death. Additional studies should be performed to clarify the role of these variants in sudden cardiac death.

Country
Spain
Keywords

Base Sequence, Heart Diseases, Sudden death, Mort sobtada, Molecular Sequence Data, Mutation, Missense, sudden cardiac death, Article, pediatric, juvenile, forensics, Death, Sudden, Cardiac, INDEL Mutation, Case-Control Studies, Humans, genetics, next-generation sequencing, titin, Connectin, Malalties congènites, Genetic disorders

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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