Novel Mutation in PRKAR1A in Carney Complex.
Article Details
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Park KU, Kim HS, Lee SK, Jung WW, Park YK
Novel Mutation in PRKAR1A in Carney Complex.
Korean J Pathol. 2012 Dec;46(6):595-600. doi: 10.4132/KoreanJPathol.2012.46.6.595. Epub 2012 Dec 26.
- PubMed ID
- 23323113 [ View in PubMed]
- 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.