All probands fulfilled task force criteria for ARVC. Because of this asymmetrical distribution of mutated genes, the effectiveness of this risk score to predict events in patients with DSP or DSG2 mutation was not guaranteed. DSG2 is expressed in many tissues, including the myocardium. 2,3 The majority of these mutations are insertion/deletion or nonsense mutations, which are expected to cause premature termination of the encoded proteins. Furthermore, in Cadrin‐Tourigny's study, among the 340 patients with mutations, 258 (76%) patients had a PKP2 mutation, while DSP was involved in 7% and DSG2 in 5% of patients. Diseases associated with DSG2 include arrhythmogenic right ventricular dysplasia 10, and cardiomyopathy, dilated, 1bb. This protein is part of the desmosome complex, which is present in both muscle and skin cells. Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients. Keratoderma with woolly hair. Desmocollin-2 has been shown to interact with: DSG2; JUP; References Expression of Acta1 mRNA is increased in Dsg2 mutant myocardium. Conclusions Five novel heterozygous mutations (R158K, Q211X, L419S, A793D and N852fsX930) of PKP2 and three heterozygous mutations (R46G, D494A and F531C) of DSG2 were identified. ARVC/D patients with compound heterozygous mutations in the DSG2 gene or digenic mutations in the DSG2 and DSC2 genes have been reported (Awad et al. The majority of causative variants are missense mutations, however, nonsense, small insertions or deletions, and splicing mutations have also been reported. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). Gene symbol: Chromosomal location: Gene name: Mutation total: Log in: DSG2: 18q12.1: Desmoglein 2: 99 At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. Am J Hum Genet 79:136-142, 2006). Therefore, ARVD is currently considered, at least in a subset, a disease of the cardiac desmosome. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). Aims Mutations in the desmoglein-2 (DSG2) gene have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) but clinical information regarding the associated phenotype is at present limited. DSG1 (Desmoglein 1) is a Protein Coding gene. These results show that DSG2-F531C mutation can destroy the structure of desmosome. (2) Cardiac outcome could be stratified by mutation status and age. Interestingly, biallelic or digenic DSC2 and/or DSG2 mutations are frequently identified in TFC+ ARVD/C patients, suggesting that a single mutation is less likely to cause a full-blown ARVD/C phenotype. Conclusions: The mutation of DSG2-F531C is a pathogenic mutation of ARVC, and further, DSG2-F531C caused ARVC in human and knock-in mice is gene dose-dependent. The pathogenic mutation related to ARVC/D, hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) were displayed according to PubMed ClinVar and recent reports from PubMed. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fibrofatty replacement of cardiac myocytes that typically manifests in the right ventricle. Our findings here offer a novel pathway of CSTA regulation involving Dsg2 and a potential crosstalk between Dsg2 and CSTA that modulates cell adhesion. One of these probands has compound-heterozygous mutations in DSG2, and the remaining three have isolated heterozygous missense mutations, each disrupting known functional components of desmoglein-2. No association between mutations in this gene and human disease has been reported elsewhere. 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