Carney complex

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Test Code 9038
Turnaround Time (TAT) 14-21 days
Number of Genes 1
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Test Description

PRKAR1A heterozygous germline pathogenic mutations cause Carney Complex, which is characterized by primary pigmented nodular adrenocortical disease (PPNAD)(present in 26-60% of individuals), pituitary adenoma (in 10-12%), cardiac myxoma (in 32-53%), skin and breast myxomas (in 20-33%), thyroid nodules (in 25%) and/or carcinoma (in 2-5%), large-cell calicifying sertoli cell tumor (in 33-41%), and psammomatous melanotic schwannomas (in 8-10%).1-4

 

1. Bertherat J, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91

2. Groussin L et al. Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. Am J Hum Genet. 2002 Dec;71(6):1433-42.

3. Mateus C, et al. Heterogeneity of skin manifestations in patients with Carney complex. J Am Acad Dermatol. 2008 Nov;59(5):801-10.

4. Stratakis CA, et al. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001 Sep;86(9):4041-6.

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