Korean J Pathol.
2012 Dec;46(6):595-600.
Novel Mutation in PRKAR1A in Carney Complex
- Affiliations
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- 1Indiana University School of Medicine, Indianapolis, IN, USA.
- 2Department of Biomedical Science, College of Health Science, Korea University, Seoul, Korea.
- 3Research Institute of Health Science, College of Health Science, Korea University, Seoul, Korea.
- 4Department of Pathology, Kyung Hee University School of Medicine, Seoul, Korea. ykpark@khmc.or.kr
Abstract
- 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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