Key result
Heterozygous missense variants in ACTC1 underlie a novel syndrome of distal arthrogryposis accompanied by congenital heart defects by disrupting actin subdomain 2 and D-loop interactions.
Why the study?
Few sarcomeric genes have been reported where the same variant affects both skeletal and cardiac muscle, and no known genes underlying distal arthrogryposis had mutations also causing cardiac abnormalities.
Population
Five families with distal arthrogryposis
Design
Case series
Authors
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May warrant ACTC1 testing in distal arthrogryposis with congenital heart defects; leaves open broader validation and adoption.
Observational (n=8)
Yes
Heterozygous missense variants in ACTC1 underlie a novel condition combining distal arthrogryposis and congenital heart defects, highlighting shared actin functions in cardiac and skeletal muscle.
Chong et al. (2023) conducted an observational in Distal arthrogryposis and congenital heart defects (n=8). ACTC1 heterozygous missense variants vs. Wild type ACTC1 was evaluated on Identification of pathogenic variants and structural changes in actin. Heterozygous missense variants in ACTC1 underlie a novel syndrome of distal arthrogryposis accompanied by congenital heart defects by disrupting actin subdomain 2 and D-loop interactions.
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