Abstract
BackgroundLeft ventricular non‐compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. However, the number of the previous LVNC‐associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC‐associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false‐positive LVNC‐associated variants.Methods and ResultsThe Human Gene Mutation Database and PubMed were systematically searched to identify all previously reported LVNC‐associated variants. Thereafter, the Exome Sequencing Project (ESP) and the Exome Aggregation Consortium (ExAC), that both represent the background population, was searched for all variants. Four in silico prediction tools were assessed to determine the functional effects of these variants. The prediction results of those identified in the ESP and ExAC and those not identified in the ESP and ExAC were compared. In 12 genes, 60 LVNC‐associated missense/nonsense variants were identified. MYH7 was the predominant gene, encompassing 24 of the 60 LVNC‐associated variants. The ESP only harbored nine and ExAC harbored 18 of the 60 LVNC‐associated variants. In total, eight out of nine ESP‐positive variants overlapped with the 18 variants identified in ExAC database.ConclusionsIn this article, we identified 9 ESP‐positive and 18 ExAC‐positive variants of 60 previously reported LVNC‐associated variants, suggesting that these variants are not necessarily the monogenic cause of LVNC.
Highlights
Left ventricular non-compaction (LVNC) is a rare cardiomyopathy with a prevalence that varies considerably among studies (0.014–14%) (Oechslin et al 2000; Pignatelli et al 2003; Sto€llberger and Finsterer 2005; Aras et al 2006; Belanger et al 2008; Stanton et al 2009; Tian et al 2014)
We identified 60 missense/nonsense variants previously associated with LVNC, and most of the variants (40%) were found in MYH7 (24 out of 60)
In the Exome Aggregation Consortium (ExAC) database, we identified 18 variants distributed in all genes except tropomyosin 1 (TPM1)
Summary
Left ventricular non-compaction (LVNC) is a rare cardiomyopathy with a prevalence that varies considerably among studies (0.014–14%) (Oechslin et al 2000; Pignatelli et al 2003; Sto€llberger and Finsterer 2005; Aras et al 2006; Belanger et al 2008; Stanton et al 2009; Tian et al 2014). Left ventricular non-compaction is most likely caused by a pathological arrest in the compaction process, which leads to a non-compacted left ventricular a 2015 The Authors. Left ventricular non-compaction (LVNC) is a rare cardiomyopathy. Many genetic variants have been associated with LVNC. The number of the previous LVNC-associated variants that are common in the background population remains unknown. The aim of this study was to provide an updated list of previously reported LVNC-associated variants with biologic description and investigate the prevalence of LVNC variants in healthy general population to find false-positive LVNC-associated variants
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