Novel Mutation in PRKAR1A in Carney Complex.
- Author:
Ko Un PARK
1
;
Hyun Sook KIM
;
Seung Kwan LEE
;
Woon Won JUNG
;
Yong Koo PARK
Author Information
1. Indiana University School of Medicine, Indianapolis, IN, USA.
- Publication Type:Case Report
- Keywords:
Carney complex;
PRKAR1A;
PDE11A;
Superficial angiomyxoma
- MeSH:
Carney Complex;
Cyclic AMP-Dependent Protein Kinases;
Humans;
Korea;
Myxoma;
Skin
- From:Korean Journal of Pathology
2012;46(6):595-600
- CountryRepublic of Korea
- Language:English
-
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.
