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Literature DB >> 23323113

Novel Mutation in PRKAR1A in Carney Complex.

Ko Un Park¹, Hyun-Sook Kim, Seung Kwan Lee, Woon-Won Jung, Yong-Koo Park.

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.

Entities: Chemical Disease Gene Mutation Species

Keywords: Carney complex; PDE11A; PRKAR1A; Superficial angiomyxoma

Year: 2012 PMID： 23323113 PMCID： PMC3540340 DOI： 10.4132/KoreanJPathol.2012.46.6.595

Source DB: PubMed Journal: Korean J Pathol ISSN： 1738-1843

18 in total

Review 1. PRKAR1A and the evolution of pituitary tumors.

Authors: Lawrence S Kirschner
Journal: Mol Cell Endocrinol Date: 2010-05-06 Impact factor: 4.102

Review 2. Carney complex: the first 20 years.

Authors: Sosipatros A Boikos; Constantine A Stratakis
Journal: Curr Opin Oncol Date: 2007-01 Impact factor: 3.645

3. Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.

Authors: Rossella Libé; Anelia Horvath; Delphine Vezzosi; Amato Fratticci; Joel Coste; Karine Perlemoine; Bruno Ragazzon; Marine Guillaud-Bataille; Lionel Groussin; Eric Clauser; Marie-Laure Raffin-Sanson; Jennifer Siegel; Jason Moran; Limor Drori-Herishanu; Fabio Rueda Faucz; Maya Lodish; Maria Nesterova; Xavier Bertagna; Jerome Bertherat; Constantine A Stratakis
Journal: J Clin Endocrinol Metab Date: 2010-11-03 Impact factor: 5.958

4. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

Authors: L S Kirschner; J A Carney; S D Pack; S E Taymans; C Giatzakis; Y S Cho; Y S Cho-Chung; C A Stratakis
Journal: Nat Genet Date: 2000-09 Impact factor: 38.330

5. Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Authors: Madson Q Almeida; Constantine A Stratakis
Journal: Best Pract Res Clin Endocrinol Metab Date: 2010-12 Impact factor: 4.690

Review 6. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation.

Authors: C A Stratakis; L S Kirschner; J A Carney
Journal: J Clin Endocrinol Metab Date: 2001-09 Impact factor: 5.958

7. The complex of myxomas, spotty pigmentation, and endocrine overactivity.

Authors: J A Carney; H Gordon; P C Carpenter; B V Shenoy; V L Go
Journal: Medicine (Baltimore) Date: 1985-07 Impact factor: 1.889

8. Mutation of perinatal myosin heavy chain associated with a Carney complex variant.

Authors: Mark Veugelers; Michael Bressan; Deborah A McDermott; Stanislawa Weremowicz; Cynthia C Morton; C Charlton Mabry; Jean-François Lefaivre; Alan Zunamon; Anne Destree; Jean-Marie Chaudron; Craig T Basson
Journal: N Engl J Med Date: 2004-07-29 Impact factor: 91.245

2. Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report.

Authors: Hyunchul Kim; Hyun-Yee Cho; Jeong Nam Lee; Kook-Yang Park
Journal: J Pathol Transl Med Date: 2016-02-04

2 in total