Novel mutation in PRKAR1A in carney complex

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

doi:10.4132/KoreanJPathol.2012.46.6.595

Novel mutation in PRKAR1A in carney complex

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

School of Health and Environmental Science

Research output: Contribution to journal › Article › peer-review

3 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 language	English
Pages (from-to)	595-600
Number of pages	6
Journal	Korean Journal of Pathology
Volume	46
Issue number	6
DOIs	https://doi.org/10.4132/KoreanJPathol.2012.46.6.595
Publication status	Published - 2012

Keywords

Carney complex
PDE11A
PRKAR1A
Superficial angiomyxoma

ASJC Scopus subject areas

Pathology and Forensic Medicine

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10.4132/KoreanJPathol.2012.46.6.595

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title = "Novel mutation in PRKAR1A in carney complex",

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.",

keywords = "Carney complex, PDE11A, PRKAR1A, Superficial angiomyxoma",

author = "Park, {Ko Un} and Kim, {Hyun Sook} and Lee, {Seung Kwan} and Jung, {Woon Won} and Park, {Yong Koo}",

year = "2012",

doi = "10.4132/KoreanJPathol.2012.46.6.595",

language = "English",

volume = "46",

pages = "595--600",

journal = "Journal of Pathology and Translational Medicine",

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T1 - Novel mutation in PRKAR1A in carney complex

AU - Park, Ko Un

AU - Kim, Hyun Sook

AU - Lee, Seung Kwan

AU - Jung, Woon Won

AU - Park, Yong Koo

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Carney complex

KW - PDE11A

KW - PRKAR1A

KW - Superficial angiomyxoma

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M3 - Article

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AN - SCOPUS:84874075488

SN - 2383-7837

VL - 46

SP - 595

EP - 600

JO - Journal of Pathology and Translational Medicine

JF - Journal of Pathology and Translational Medicine

IS - 6

ER -

Novel mutation in PRKAR1A in carney complex

Abstract

Keywords

ASJC Scopus subject areas

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