The DSG2 gene encodes the protein desmoglein-2. 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. All probands fulfilled task force criteria for ARVC. The study has revealed a greater frequency of occurrence of PKP2 mutations when compared to DSG2 mutations. These results show that DSG2-F531C mutation can destroy the structure of desmosome. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). Diseases associated with DSG2 include arrhythmogenic right ventricular dysplasia 10, and cardiomyopathy, dilated, 1bb. 2,3 The majority of these mutations are insertion/deletion or nonsense mutations, which are expected to cause premature termination of the encoded proteins. 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. DSG2 is an essential component of the desmosome so mutations of this gene disrupt the proper organization of desmosomal junctions. Am J Hum Genet 79:136-142, 2006). DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. There are some difference between patients with PKP2 mutation and that with DSG2 mutation … Conclusions-Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients. It is inherited as an autosomal dominant disease with reduced penetrance, although autosomal recessive forms of the disease also occur. This protein is part of the desmosome complex, which is present in both muscle and skin cells. However, the molecular pathomechanism of many DSG2 mutations is … An endomyocardial biopsy was obtained in 5, showing extensive … Desmoglein-2 (Dsg2) is a specific cadherin of the cell-cell contact in cardiac desmosomes. Abstract. The disease is caused by mutations affecting the gene represented in this entry. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fibrofatty replacement of cardiac myocytes that typically manifests in the right ventricle. In this study, we aimed to clinically characterize probands and family members carrying a DSG2 mutation. Keratoderma with woolly hair. Studies investigating two heterozygous DSC2 mutations have shown that certain mutations in the N-terminal region can modify the subcellular localization of desmocollin-2 from the desmosomal plaque to the cytoplasm. 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. An endomyocardial biopsy was obtained in 5, showing extensive … All probands fulfilled task force criteria for ARVC. 28 Jan 2019, Gel status: 1 Created, Added New Source, Set mode of inheritance, Set Phenotypes Rebecca Foulger (Genomics England curator) gene: DSG2 was added gene: DSG2 … The molecular pathomechanisms of the vast majority of DSG2 mutations, however, are unknown. At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. To identify early changes in gene expression that are caused by Dsg2 mutation, transcriptome profiles of heart tissue were determined for 2-week-old, macroscopically normal-appearing hearts of Dsg2 mt/mt mice and compared to those of matched hearts obtained from Dsg2 wt/wt and Dsg2 mt/wt mice (n=3 in each instance). View mouse Dsg2 Chr18:20558074-20604521 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression Desmocollin-2 has been shown to interact with: DSG2; JUP; References Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 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. Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients. DSG2 is expressed in many tissues, including the myocardium. DSG1 (Desmoglein 1) is a Protein Coding gene. Nine heterozygous DSG2 mutations (5 missense, 2 insertion-deletions, 1 nonsense, and 1 splice site mutation) were detected in 8 probands (10%). Desmoglein-2 (DSG2) is a specific cadherin of the cell-cell contact in cardiac desmosomes. 17 Because of the association between mutations in three components of the cardiac desmosome and ARVD/C, we analyzed probands with this disorder for mutations in DSG2, which encodes desmoglein-2. DSG2 A gene on chromosome 18q12.1 that encodes desmoglein 2, a calcium-binding transmembrane glycoprotein component of desmosomes expressed in the colon, in colorectal carcinoma, and in other simple and stratified epithelial-derived cell lines. Expression of Acta1 mRNA is increased in Dsg2 mutant myocardium. 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