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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy characterized by ventricular tachyarrhythmias, fibrofatty myocardial replacement and risk of sudden cardiac death. Comprehensive sequencing and MLPA of desmosomal genes and TGFB3 in a Danish cohort of 65 unrelated ARVC probands revealed no coding or structural variants in TGFB3 ([PMID:20864495]). Thus, there is no case‐level or segregation evidence implicating TGFB3 in ARVC.
No ARVC‐specific functional studies exist for TGFB3, and available data address developmental roles in vascular morphogenesis, palate formation and connective tissue syndromes rather than myocardial pathology. In the absence of genetic or experimental evidence, TGFB3 is not supported as an ARVC gene and routine clinical testing of TGFB3 for ARVC is not recommended. Key take-home: TGFB3 lacks evidence for involvement in arrhythmogenic right ventricular cardiomyopathy.
Gene–Disease AssociationRefutedNo TGFB3 mutations identified in 65 unrelated ARVC probands ([PMID:20864495]). Genetic EvidenceRefutedAbsence of any coding or structural variants in TGFB3 among 65 screened patients ([PMID:20864495]). Functional EvidenceNo EvidenceNo ARVC‐specific functional data for TGFB3; available studies address developmental processes unrelated to cardiac pathology. |