A Novel Missense Variant in Actin Binding Domain of
LVNC
WES
cardiomyopathy
myosin heavy chain 7
zebrafish
Journal
Frontiers in cardiovascular medicine
ISSN: 2297-055X
Titre abrégé: Front Cardiovasc Med
Pays: Switzerland
ID NLM: 101653388
Informations de publication
Date de publication:
2022
2022
Historique:
received:
20
12
2021
accepted:
22
02
2022
entrez:
25
4
2022
pubmed:
26
4
2022
medline:
26
4
2022
Statut:
epublish
Résumé
Cardiomyopathies are a group of common heart disorders that affect numerous people worldwide. Left ventricular non-compaction (LVNC) is a structural disorder of the ventricular wall, categorized as a type of cardiomyopathy that mostly caused by genetic disorders. Genetic variations are underlying causes of developmental deformation of the heart wall and the resultant contractile insufficiency. Here, we investigated a family with several affected members exhibiting LVNC phenotype. By whole-exome sequencing (WES) of three affected members, we identified a novel heterozygous missense variant (c.1963C>A:p.Leu655Met) in the gene encoding myosin heavy chain 7 (
Identifiants
pubmed: 35463789
doi: 10.3389/fcvm.2022.839862
pmc: PMC9024299
doi:
Types de publication
Journal Article
Langues
eng
Pagination
839862Informations de copyright
Copyright © 2022 Hesaraki, Bora, Pahlavan, Salehi, Mousavi, Barekat, Rasouli, Baharvand, Ozhan and Totonchi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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