Novel Mutation in PRKAR1A in Carney Complex
Park Ko-Un, 김현숙, 이승관, 정운원, 박용구,
소속 상세정보
( Park Ko-Un )
Indiana University School of Medicine
김현숙 ( Kim Hyun-Sook )
Korea University College of Health Science Department of Biomedical Science
이승관 ( Lee Seung-Kwan )
Korea University College of Health Science Department of Biomedical Science
정운원 ( Jung Woon-Won )
Korea University College of Health Science Research Institute of Health Science
박용구 ( Park Yong-Koo )
Kyung Hee University School of Medicine Department of Pathology
KMID : 0357920120460060595
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.
키워드
Carney complex; PRKAR1A; PDE11A; Superficial angiomyxoma
원문 및 링크아웃 정보
등재저널 정보