A Splice Variant of the <i>MYH7</i> Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
Roman P MyasnikovOlga V KulikovaAlexey Nikolaevich MeshkovAnna A BukaevaAnna Vitalievna KiselevaAlexandra I ErshovaAnna V PetukhovaMikhail G DivashukEvgenia D ZotovaEvgeniia A SotnikovaAlexandra A AbishevaAlisa V MuravevaSergey N KoretskiySergey V PopovMarina V UtkinaEkaterina A SnigirSergey I MitrofanovKsenia D KonureevaElena A MershinaValentin E SinitsynSergey M YudinOxana M DrapkinaPublished in: Genes (2022)
Variants of the <i>MYH7</i> gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of <i>MYH7</i>-related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in <i>MYH7</i> (<i>MYH7</i>tv) and associated mechanism of haploinsufficiency are usually considered not pathogenic in these disorders. However, recent large-scale studies demonstrated evidence of the significance of <i>MYH7</i>tv for LVNC and gave rise to an assumption that haploinsufficiency may be the causal mechanism for LVNC. In this article, we present a family with isolated LVNC and a heterozygous splice variant of the <i>MYH7</i> gene, analyze possible consequences of this variant and conclude that not all variants that are predicted truncating really act through haploinsufficiency. This study can highlight the importance of a precise assessment of <i>MYH7</i> splicing variants and their participation in the development of LVNC.
Keyphrases
- hypertrophic cardiomyopathy
- left ventricular
- copy number
- heart failure
- genome wide
- cardiac resynchronization therapy
- acute myocardial infarction
- left atrial
- mitral valve
- aortic stenosis
- genome wide identification
- early onset
- intellectual disability
- gene expression
- atrial fibrillation
- coronary artery disease
- aortic valve
- case control
- genome wide analysis