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
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author Park, Ko Un
Kim, Hyun-Sook
Lee, Seung Kwan
Jung, Woon-Won
Park, Yong-Koo
author_facet Park, Ko Un
Kim, Hyun-Sook
Lee, Seung Kwan
Jung, Woon-Won
Park, Yong-Koo
author_sort Park, Ko Un
collection PubMed
description 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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spelling pubmed-35403402013-01-15 Novel Mutation in PRKAR1A in Carney Complex Park, Ko Un Kim, Hyun-Sook Lee, Seung Kwan Jung, Woon-Won Park, Yong-Koo Korean J Pathol Case Report 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. The Korean Society of Pathologists and The Korean Society for Cytopathology 2012-12 2012-12-26 /pmc/articles/PMC3540340/ /pubmed/23323113 http://dx.doi.org/10.4132/KoreanJPathol.2012.46.6.595 Text en © 2012 The Korean Society of Pathologists/The Korean Society for Cytopathology http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Park, Ko Un
Kim, Hyun-Sook
Lee, Seung Kwan
Jung, Woon-Won
Park, Yong-Koo
Novel Mutation in PRKAR1A in Carney Complex
title Novel Mutation in PRKAR1A in Carney Complex
title_full Novel Mutation in PRKAR1A in Carney Complex
title_fullStr Novel Mutation in PRKAR1A in Carney Complex
title_full_unstemmed Novel Mutation in PRKAR1A in Carney Complex
title_short Novel Mutation in PRKAR1A in Carney Complex
title_sort novel mutation in prkar1a in carney complex
topic Case Report
url 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
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