Novel mutation in PRKAR1A in carney complex

Ko Un Park, Hyun Sook Kim, Seung Kwan Lee, Woon Won Jung, Yong Koo Park

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)595-600
Number of pages6
JournalKorean Journal of Pathology
Volume46
Issue number6
DOIs
Publication statusPublished - 2012 Dec 1

Fingerprint

Carney Complex
Myxoma
Mutation
Phosphoric Diester Hydrolases
Korea
Cyclic AMP-Dependent Protein Kinases
Genes
Skin

Keywords

  • Carney complex
  • PDE11A
  • PRKAR1A
  • Superficial angiomyxoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Novel mutation in PRKAR1A in carney complex. / Park, Ko Un; Kim, Hyun Sook; Lee, Seung Kwan; Jung, Woon Won; Park, Yong Koo.

In: Korean Journal of Pathology, Vol. 46, No. 6, 01.12.2012, p. 595-600.

Research output: Contribution to journalArticle

Park, Ko Un ; Kim, Hyun Sook ; Lee, Seung Kwan ; Jung, Woon Won ; Park, Yong Koo. / Novel mutation in PRKAR1A in carney complex. In: Korean Journal of Pathology. 2012 ; Vol. 46, No. 6. pp. 595-600.
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