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• W2000392218 abstract "Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiac disease, usually an autosomal dominant disorder, that may lead to sudden death, particularly in young people and athletes. Five desmosomal genes have been recently implicated in ARVD/C: JUP, DSP, PKP2, DSG2 and DSC2. We performed a systematic screening of these genes in a large population to address the potential clinical impact of genotyping. Direct sequencing of the 5 predefined genes was performed in 135 unrelated patients with ARVD/C meeting the international Task Force criteria. We identified 66 disease-causing mutations in 61 patients (45%). Distribution of genes was 31% (41/135) for PKP2, 10% (14/135) for DSG2, 4% (6/135) for DSP, 1% (2/135) for DSC2 and 0% for JUP. The identification rate was not related to age of patients nor familial context. In 48% (32/66) a mutation was identified in a single family or individual (private mutation). In addition, a genetic variant of unknown significance was identified in additional 10 patients (7%). Finally, complex genetic status with double mutations was identified in 4% of patients and multiple mutations tend to be associated with a more severe phenotype (namely more frequent cardiac arrest). We performed the most comprehensive screening of desmosomal genes in the largest population of ARVD/C patients reported until now. A molecular diagnosis strategy can be deduced, requiring however exhaustive genetic screening of four desmosomal genes, with the possible identification of genetic variants of unknown significance. The relatively high success rate of genotyping in ARVD/C suggests the possible use of genetic testing as a diagnostic tool, with potential important impact for early diagnosis in borderline patients and relatives." @default.
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• W2000392218 date "2010-01-01" @default.
• W2000392218 modified "2023-10-18" @default.
• W2000392218 title "077 Desmosomal genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Spectrum of mutations and impact on genetic analyses in practice" @default.
• W2000392218 doi "https://doi.org/10.1016/s1878-6480(10)70079-3" @default.
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