The CSRP3 gene has been associated with hypertrophic cardiomyopathy in 51 probands in 12 publications. Twenty-one unique heterozygous variants (missense, nonsense, and frameshift), with some evidence to support their pathogenicity, have been reported in humans (PMID: 19035361, PMID: 16352453, PMID: 26656175, PMID: 18505755, PMID: 12642359, PMID: 23396983, PMID: 25351510, PMID: 15781201, PMID: 23861362, PMID: 21425739, PMID: 22429680, PMID: 20087448). CSRP3 was first associated with this disease in humans in 2003 (Geier et al., PMID 12642359). The mechanism for disease is unknown. The gene-disease association is supported by expression studies and in vitro assays. In summary, there is moderate evidence to support this gene-disease association with HCM. While more evidence is needed to establish this association definitively, no convincing contradictory evidence has emerged.
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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