ArticleEuropean journal of human genetics : EJHG2009
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy.BMC medical genomics · 2026Article
- Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.Journal of the American Heart Association · 2022Article
- Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy.Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population.Oncotarget · 2017Article
- Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.American journal of physiology. Heart and circulatory physiology · 2016Article
- A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.PloS one · 2015Article
- S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.European journal of human genetics : EJHG · 2014Article
- δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches.Skeletal muscle · 2011Article
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the delta-sarcoglycan gene and a second delta-sarcoglycan mutation that has previously been reported to cause severe autosomal-dominant dilated cardiomyopathy. We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy. In four heterozygous carriers for the mutation, aged 3-64 years, a second sequence variant in exon 6 (p.S151A) of the delta-sarcoglycan gene was detected on the other allele. This second missense change had previously been reported to be responsible for fatal autosomal-dominant dilated cardiomyopathy at young age. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb girdle muscular dystrophy. Our findings demonstrate that, even in the presence of a second disease-causing mutation, the p.S151A mutation in the delta-sarcoglycan gene does not result in cardiomyopathy. This finding questions the pathological relevance of this sequence variant for causing familial autosomal-dominant dilated cardiomyopathy and thereby the role of the delta-sarcoglycan gene in general as a disease-causing gene for autosomal-dominant dilated cardiomyopathy.
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