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In a single pediatric cohort study of 41 children with early-onset dilated cardiomyopathy, PSEN1 was included among 15 cardiomyopathy-associated genes screened by sequencing, but no PSEN1 coding variants were identified in any of the 41 probands ([PMID:21483645]). Although 35 of these pediatric cases had relatives with adult-onset dilated cardiomyopathy, none of the familial segregations implicated PSEN1, and no functional or expression analyses have linked PSEN1 to myocardial pathology in DCM.
This lack of identified PSEN1 variants in a well-characterized DCM cohort supports a Limited level of clinical validity for PSEN1 in dilated cardiomyopathy, reflecting minimal genetic and experimental evidence for this association. Key Take-home: PSEN1 sequencing has not yielded pathogenic variants in pediatric DCM, indicating that PSEN1 is unlikely to be a major contributor to this phenotype.
Gene–Disease AssociationLimitedPSEN1 was sequenced in one pediatric DCM cohort of 41 cases with no identified pathogenic variants ([PMID:21483645]). Genetic EvidenceLimitedNo deleterious PSEN1 variants reported in 41 pediatric DCM probands by detailed genetic evaluation ([PMID:21483645]). Functional EvidenceLimitedNo functional or expression studies linking PSEN1 to dilated cardiomyopathy. |