Detection of PRKAR1A gene mutations in sporadic cardiac myxomas: a study of 24 cases.

ABSTRACT: The benign neoplasm cardiac myxoma represents one of the hallmarks of Carney complex (CNC), a familial multiple neoplasia syndrome. About 80% of the index cases have germline mutations in PRKAR1A encoding the RIα regulatory subunit of cAMP-dependent protein kinase A (PKA). However, the role of PRKAR1A gene mutations in the pathogenesis of non-CNC-associated sporadic cardiac myxoma is less well established. Here, we investigated the presence of PRKAR1A gene variants in a cohort of 24 sporadic cardiac myxomas using targeted next-generation sequencing. Our study shows that 14 out of 24 cases (58%) harbor PRKAR1A gene mutations, represented mostly by frameshift, nonsense, and splice site mutations (together 84%), leading to a premature stop codon predicted to be degraded via non-sense mediated

SUBMITTER: Bekers E 

PROVIDER: S-EPMC11950028 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature