Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG

Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic muta...

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Autores principales: Guo, Hongwei, Xu, Jianping, Xiong, Hui, Hu, Shengshou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349715/
https://www.ncbi.nlm.nih.gov/pubmed/25890363
http://dx.doi.org/10.1186/s12957-015-0470-4
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author Guo, Hongwei
Xu, Jianping
Xiong, Hui
Hu, Shengshou
author_facet Guo, Hongwei
Xu, Jianping
Xiong, Hui
Hu, Shengshou
author_sort Guo, Hongwei
collection PubMed
description Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in related Chinese patients with a c.491_492delTG mutation that presented with multiple and extensive cardiac myxomas and skin pigmentation.
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spelling pubmed-43497152015-03-05 Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG Guo, Hongwei Xu, Jianping Xiong, Hui Hu, Shengshou World J Surg Oncol Case Report Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in related Chinese patients with a c.491_492delTG mutation that presented with multiple and extensive cardiac myxomas and skin pigmentation. BioMed Central 2015-02-27 /pmc/articles/PMC4349715/ /pubmed/25890363 http://dx.doi.org/10.1186/s12957-015-0470-4 Text en © Guo et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Guo, Hongwei
Xu, Jianping
Xiong, Hui
Hu, Shengshou
Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
title Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
title_full Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
title_fullStr Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
title_full_unstemmed Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
title_short Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG
title_sort case studies of two related chinese patients with carney complex presenting with extensive cardiac myxomas and prkar1a gene mutation of c.491_492deltg
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349715/
https://www.ncbi.nlm.nih.gov/pubmed/25890363
http://dx.doi.org/10.1186/s12957-015-0470-4
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