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

by Kiseleva, Anna V. , Yudin, Sergey M. , Abisheva, Alexandra A. , Petukhova, Anna V. , Koretskiy, Sergey N. , Meshkov, Alexey N. , Muraveva, Alisa V. , Utkina, Marina V. , Mershina, Elena A. , Kulikova, Olga V. , Bukaeva, Anna A. , Ershova, Alexandra I. , Drapkina, Oxana M. , Sotnikova, Evgeniia A. , Snigir, Ekaterina A. , Popov, Sergey V. , Sinitsyn, Valentin E. , Myasnikov, Roman P. , Mitrofanov, Sergey I. , Divashuk, Mikhail G. , Zotova, Evgenia D. , Konureeva, Ksenia D.

in 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

2022

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

2022

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

2022

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Journal Article

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

Kiseleva, Anna V.,

Yudin, Sergey M.,

Abisheva, Alexandra A.,

Petukhova, Anna V.,

Koretskiy, Sergey N.,

Meshkov, Alexey N.,

Muraveva, Alisa V.,

Utkina, Marina V.,

Mershina, Elena A.,

Kulikova, Olga V.,

Bukaeva, Anna A.,

Ershova, Alexandra I.,

Drapkina, Oxana M.,

Sotnikova, Evgeniia A.,

Snigir, Ekaterina A.,

Popov, Sergey V.,

Sinitsyn, Valentin E.,

Myasnikov, Roman P.,

Mitrofanov, Sergey I.,

Divashuk, Mikhail G.,

Zotova, Evgenia D.,

Konureeva, Ksenia D.

2022

Overview

Variants of the MYH7 gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of MYH7-related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in MYH7 (MYH7tv) and associated mechanism of haploinsufficiency are usually considered not pathogenic in these disorders. However, recent large-scale studies demonstrated evidence of the significance of MYH7tv 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 MYH7 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 MYH7 splicing variants and their participation in the development of LVNC.

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Publisher

MDPI AG,MDPI

Subject

Alternative splicing

/ Cardiac Myosins - genetics

/ Cardiomyopathies

/ Cardiomyopathy

/ Electrocardiography

/ Genes

/ Genomes