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Article

A novel causative functional mutation in GATA6 gene is responsible for familial dilated cardiomyopathy as supported by in silico functional analysis.

Scientific reports - 12 Aug 2022

Khazamipour Afrouz, Gholampour-Faroji Nazanin, Zeraati Tina, Vakilian Farveh, Haddad-Mashadrizeh Aliakbar, Ghayour Mobarhan Majid, Pasdar Alireza

Abstract excerpt

Dilated cardiomyopathy (DCM), one of the most common types of cardiomyopathies has a heterogeneous nature and can be seen in Mendelian forms. Next Generation Sequencing is a powerful tool for identifying novel variants in monogenic disorders. We used whole-exome sequencing (WES) and Sanger sequencing techniques to identify the causative mutation of DCM in an Iranian pedigree. We found a novel variant in the GATA6...

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Identifiers

PMID: 35962153
DOI: 10.1038/s41598-022-13993-6
PMCID: PMC9374661

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