Novel Mutation in PRKAR1A in Carney Complex

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...

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Detalles Bibliográficos
Autores principales: Park, Ko Un, Kim, Hyun-Sook, Lee, Seung Kwan, Jung, Woon-Won, Park, Yong-Koo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pathologists and The Korean Society for Cytopathology 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540340/
https://www.ncbi.nlm.nih.gov/pubmed/23323113
http://dx.doi.org/10.4132/KoreanJPathol.2012.46.6.595
Descripción
Sumario: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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