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Related Experiment Video

Updated: Sep 20, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Yuri A Zarate¹, Lina Abdelmoti², Seungjae Oh²

¹Division of Genetics and Metabolism, University of Kentucky, Lexington, Kentucky, USA.

Clinical Genetics

|May 27, 2025

Summary

Pathogenic variants in ACTC1 gene cause cardiac conditions. This study identifies new ACTC1 variants linked to cardiomyopathies and extracardiac features like facial dysmorphism and skeletal anomalies.

Keywords:

ACTC1 Noonan syndrome left ventricular noncompaction zebrafish

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Last Updated: Sep 20, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Area of Science:

Genetics and Molecular Biology
Cardiology
Developmental Biology

Background:

Pathogenic variants in ACTC1 are associated with various cardiomyopathies.
The full spectrum of ACTC1-related phenotypes is not yet completely understood.

Purpose of the Study:

To expand the known clinical and genetic spectrum of ACTC1 variants.
To investigate the impact of novel ACTC1 variants on cardiac and extracardiac development.

Main Methods:

Clinical evaluation of two individuals with novel ACTC1 variants.
Protein structure analysis to assess variant impact on protein function.
In vivo zebrafish model to validate pathogenicity and developmental effects.

Main Results:

Two individuals with heterozygous ACTC1 variants (Gly57, Glu101) presented with hypertrophic and left ventricular noncompaction cardiomyopathies.
Extracardiac features including facial dysmorphism, short stature, and skeletal anomalies were observed.
Structural and zebrafish analyses confirmed variant pathogenicity and impact on cranial tissue development.

Conclusions:

This study broadens the understanding of ACTC1-related disorders, highlighting significant clinical and molecular diversity.
ACTC1 variants can lead to complex phenotypes involving both cardiac and extracardiac systems.
Further research is warranted to fully elucidate the genotype-phenotype correlations in ACTC1-related diseases.