Key result
Extensive genetic analysis in a Korean patient with Carney complex revealed a novel mutation in the PRKAR1A gene, with no mutation found in the PDE11A gene.
Case Report (n=1)
Identified a novel PRKAR1A mutation in a Korean patient with Carney complex, marking the first extensive genetic study for this condition in Korea.
Does not alter Carney complex diagnostics or screening; extends PRKAR1A mutation spectrum to Korean patients.
A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase type 11A (PDE11A) gene. This is the first case wherein extensive genetic studies were performed in a patient with Carney complex in Korea.
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Park et al. (2012) conducted a case report in Carney complex (n=1). Genetic analysis was evaluated on Genetic mutation identification. Extensive genetic analysis in a Korean patient with Carney complex revealed a novel mutation in the PRKAR1A gene, with no mutation found in the PDE11A gene.
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