Key result
ACTC1 mutations (including an M123V substitution in 2 pedigrees and a 17-bp deletion in 1 of 408 sporadic cases) were identified as a cause of atrial septal defects without cardiomyopathy.
Population
2 pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD, 408 sporadic…
Design
Other
Authors
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May inform genetic counseling in familial ASD; extends ACTC1 phenotypes but remains hypothesis-generating pending replication.
Observational (n=428)
ACTC1 mutations are identified as a genetic cause of isolated atrial septal defects without associated cardiomyopathy.
Matsson et al. (2007) conducted an observational in Atrial septal defect (n=428). ACTC1 mutations was evaluated on Presence of ACTC1 mutations. ACTC1 mutations (including an M123V substitution in 2 pedigrees and a 17-bp deletion in 1 of 408 sporadic cases) were identified as a cause of atrial septal defects without cardiomyopathy.
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