A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy

Variants of the gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of -related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in (...

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Bibliographic Details
Published in:Genes 2022-09, Vol.13 (10), p.1750
Main Authors: Myasnikov, Roman P, Kulikova, Olga V, Meshkov, Alexey N, Bukaeva, Anna A, Kiseleva, Anna V, Ershova, Alexandra I, Petukhova, Anna V, Divashuk, Mikhail G, Zotova, Evgenia D, Sotnikova, Evgeniia A, Abisheva, Alexandra A, Muraveva, Alisa V, Koretskiy, Sergey N, Popov, Sergey V, Utkina, Marina V, Snigir, Ekaterina A, Mitrofanov, Sergey I, Konureeva, Ksenia D, Mershina, Elena A, Sinitsyn, Valentin E, Yudin, Sergey M, Drapkina, Oxana M
Format: Article
Language:English
Subjects:
Alternative splicing
Cardiac Myosins - genetics
Cardiomyopathies
Cardiomyopathy
Electrocardiography
Genes
Genomes
Haploinsufficiency
Heart
Humans
Isolated Noncompaction of the Ventricular Myocardium - genetics
Magnetic resonance imaging
Medical research
Mutation
Mutation, Missense
MYH7 gene
Myosin Heavy Chains - genetics
Preventive medicine
Research centers
Software
Ventricle
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Summary:Variants of the gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of -related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in ( 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 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 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 splicing variants and their participation in the development of LVNC.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes13101750