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A cohort of 41 pediatric patients (G (p.Gln50Arg) (PMID:21483645) in PSEN2, with no additional unrelated carriers or segregation data reported. No cardiac‐specific functional assays have been performed to assess the impact of PSEN2 variants on myocardial function.
PSEN2 encodes a gamma‐secretase subunit implicated in amyloid processing and calcium homeostasis in neuronal tissues, but mechanistic links to cardiac muscle biology remain undefined. In the absence of replication in independent DCM cohorts, family segregation, or supportive functional evidence in cardiac models, the association between PSEN2 and dilated cardiomyopathy is classified as Limited.
Key Take-home: PSEN2 variant findings in DCM warrant cautious interpretation and require further genetic and functional validation before clinical application.
Gene–Disease AssociationLimitedSingle proband with PSEN2 missense c.149A>G (p.Gln50Arg) in 41 pediatric DCM cases; no segregation or functional validation Genetic EvidenceLimitedOne variant identified in a single proband (c.149A>G (p.Gln50Arg)) among 41 tested cases (PMID:21483645); no segregation data Functional EvidenceNo Reported EvidenceNo functional studies of PSEN2 variants in cardiac or DCM model systems |