ACTA1 was first reported in relation to autosomal dominant hypertrophic cardiomyopathy in 2001 (Lim et al., PMID: 11583900). Summary of case level and experimental data: 1.5 points. Only 3 cases of HCM have been reported: 2 of the cases were in patients with nemaline myopathy and the third case was in a patient with congenital myopathy with cores. Therefore, there is no genetic evidence fo HCM alone. Evidence supporting this gene-disease relationship includes expression data showing altered gene expression in patients, and functional assays showing variants in ACTA1 result in decreased binding affinity for α-actinin compared to wild type. No convincing evidence for a causal role for ACTA1 in autosomal dominant hypertrophic cardiomyopathy has been reported. Although this gene-disease association is supported by the aforementioned expression studies and functional assays, no reports have directly implicated the gene in humans.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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