Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 1, 2010, Pages 338-342

  Pereira, Alberto M ^a   Hes, Frederik J ^a   Horvath, Anelia ^b   Woortman, Sanne ^a   Greene, Elizabeth ^b   Bimpaki, Eirini ^b   Alatsatianos, Anton ^b   Boikos, Sosipatros ^b   Smit, Johannes W ^a   Romijn, Johannes A ^a   Nesterova, Maria ^b   Stratakis, Constantine A ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA; MESSENGER RNA;

ADRENAL HYPERPLASIA; ADULT; ARTICLE; CARNEY COMPLEX; CONTROLLED STUDY; CUSHING SYNDROME; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; IN VITRO STUDY; MALE; ONSET AGE; PEDIGREE; PHENOTYPE; PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE; PRIORITY JOURNAL;

EID: 75149196669     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0993     Document Type: Article

References (22)

1. Boikos SA, Stratakis CA 2006 Carney complex: pathology and molecular genetics. Neuroendocrinology 83:189-199
2. Carney JA 1995 Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Semin Dermatol 14:90-98
3. Stratakis CA 2009 New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. Mol Cell Endocrinol 300(1-2):152-157
4. Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA 2000 Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 9:3037-3046
5. Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J 2002 Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab 87:4324-4329
6. Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J 2006 A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab 91:1943-1949
7. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA 2000 Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex. Nat Genet 26:89-92
8. Greene EL, Horvath AD, Nesterova M, Giatzakis C, Bossis I, Stratakis CA 2008 In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. Hum Mutat 29:633-639
9. Fitzgerald J, Lamandé SR, Bateman JF 1999 Proteasomal degradation of unassembled mutant type I collagen pro-α (I) chains. J Biol Chem 274:27392-27398
10. Peterman MG 1957 Suprarenal tumor (Cushing's syndrome). J Pediatr 50:59-65
11. Kirschner LS, Kusewitt DF, Matyakhina L, Towns 2nd WH, Carney JA, Westphal H, Stratakis CA 2005 A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues. Cancer Res 65:4506-4514
12. Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos S, Robinson-White A, Lenherr S, Weinberg FD, Claflin E, Meoli E, Cho-Chung YS, Stratakis CA 2004 Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors. Cancer Res 64:8811-8815
13. Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos SG, Robinson-White A, Lenherr SM, Weinberg FD, Claflin ES, Batista D, Bourdeau I, Voutetakis A, Sandrini F, Meoli EM, Bauer AJ, Cho-Chung YS, Bornstein SR, Carney JA, Stratakis CA 2004 A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions. J Med Genet 41:923-931
14. Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J 2002 Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory sub-unit 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 71:1433-1442
15. Mavrakis M, Lippincott-Schwartz J, Stratakis CA, Bossis I 2006 Depletion of type IA regulatory subunit (RIα) of protein kinase A (PKA) in mammalian cells and tissues activates mTOR and causes autophagic deficiency. Hum Mol Genet 15:2962-29671
16. Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA 2006 Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res 66:11571-11575
17. Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA 2008 Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res 14:388-395
18. Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G 2005 Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. Hum Mutat 25:412
19. Kozak M 1997 Recognition of AUG and alternative initiator codons is augmented by Gin position +4 but is not generally affected by the nucleotide in positions +5 and +6. EMBO J 16:2482-2492
20. Stratakis CA, Kirschner LS, Carney JA 2001 Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 86:4041-4046
21. Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA 2009 Mutations in regulatory subunit type 1A of cyclic adenosine 5′-monophosphate- dependent protein kinase (PRKAR1A): pheno-type analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 94:2085-2091
22. Kinderman FS, Kim C, von Daake S, Ma Y, Pham BQ, Spraggon G, Xuong NH, Jennings PA, Taylor SS 2006 A dynamic mechanism for AKAP binding to RII isoforms of cAMP-dependent protein kinase. Mol Cell 24:397-408