Key result
Heterozygous ACTC1 variants involving residues Gly57 or Glu101 were associated with syndromic phenotypes including facial dysmorphism, short stature, skeletal anomalies, and cardiomyopathies.
Why the study?
Pathogenic variants in ACTC1 cause diverse cardiac phenotypes, and the study aimed to expand the clinical and genetic spectrum of associated phenotypes.
Population
Two individuals with heterozygous ACTC1 variants involving Gly57 or Glu101 residues
Design
Case report and functional study with in vivo zebrafish analysis
Authors
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ACTC1 variants may associate with extracardiac features in cardiomyopathy; leaves open broader phenotypic spectrum pending larger validation studies.
Case Report (n=2)
Heterozygous ACTC1 variants can cause a syndromic phenotype involving both cardiomyopathies and extracardiac developmental anomalies, expanding the known clinical spectrum of these mutations.
Zárate et al. (2025) conducted a case report in ACTC1 genetic variants (n=2). ACTC1 genetic variants (Gly57 or Glu101) was evaluated on Clinical and genetic spectrum of phenotypes. Heterozygous ACTC1 variants involving residues Gly57 or Glu101 were associated with syndromic phenotypes including facial dysmorphism, short stature, skeletal anomalies, and cardiomyopathies.
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