A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex

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Jang, Yi Sun (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
Moon, Sung Dae (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
Kim, Ju Hee (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
Lee, Ihn Suk (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
Lee, Jong Min (Department of Internal Medicine, College of Medicine, The Catholic University of Korea) ;
Kim, Hye Soo (Department of Internal Medicine, College of Medicine, The Catholic University of Korea)

Supported by : Catholic Medical Center

Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001;86:4041-4046. https://doi.org/10.1210/jcem.86.9.7903
Horvath A, Bertherat J, Groussin L, et al. Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat 2010;31:369-379. https://doi.org/10.1002/humu.21178
Cazabat L, Ragazzon B, Groussin L, Bertherat J. PRKAR1A mutations in primary pigmented nodular adreno-cortical disease. Pituitary 2006;9:211-219. https://doi.org/10.1007/s11102-006-0266-1
Groussin L, Kirschner LS, Vincent-Dejean C, 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;71:1433-1442. https://doi.org/10.1086/344579
Robinson-White A, Meoli E, Stergiopoulos S, et al. PRKAR1A mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. J Clin Endocrinol Metab 2006;91:2380-2388. https://doi.org/10.1210/jc.2006-0188

Osteochondromyxoma: Review of a rare carney complex criterion vol.5, pp.4, 2015, https://doi.org/10.1016/j.jbo.2016.07.002