Key result
ACTN2 gene mutations linked to HCM, accounting for ~2% of screened families.
Why the study?
In as many as 50% of HCM cases, the genetic cause remains unknown, suggesting that other genes may be involved.
Do mutations in the alpha-actinin-2 (ACTN2) gene cause hypertrophic cardiomyopathy?
Population
23 family members from a family with HCM, plus an additional 297 HCM probands
Design
Genome-wide linkage analysis and genetic screening study
Authors
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May inform genetic counseling in select familial HCM; leaves open role in routine testing and broader prevalence.
Observational (n=320)
Do mutations in the alpha-actinin-2 (ACTN2) gene cause hypertrophic cardiomyopathy?
Effect estimate: LOD 2.82
Mutations in the alpha-actinin-2 (ACTN2) gene are identified as a novel genetic cause of hypertrophic cardiomyopathy.
Chiu et al. (2009) conducted an observational in Hypertrophic cardiomyopathy (n=320). Genome-wide linkage analysis and gene sequencing was evaluated on Identification of genetic mutations causing hypertrophic cardiomyopathy (LOD 2.82). Mutations in the alpha-actinin-2 (ACTN2) gene were identified as a cause of hypertrophic cardiomyopathy, accounting for 1.7% of the screened HCM families.
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