In Silico Analysis of Novel Titin Non-Synonymous Missense Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy
Article Category: Original Article
Data publikacji: 05 maj 2022
Zakres stron: 565 - 571
DOI: https://doi.org/10.47803/rjc.2021.31.3.565
Słowa kluczowe
© 2021 Miruna Mihaela Micheu et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Background and aim
Most of detected variants in cardiogenetic panels are still classified as variants of unknown significance, requiring supplementary analyses for a definite classification. Performing further in-depth studies on such vast number of candidates is unfeasible. We sought to prioritise the novel nonsynonymous missense variants identified in titin gene (TTN) in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM).
Methods
45 unrelated probands with HCM were screened by targeted next generation sequencing (NGS) covering all TTN exons. A stepwise strategy was used to select and prioritize the candidate variants for subsequent investigation.
Results
Using rigorous bioinformatic filtering, 7 novel TTN nonsynonymous missense variants were identified and were the subject of
Conclusions
Herein we presented our strategy to hand-pick the novel TTN missense variants to be considered for further experimental studies. By applying various