Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 9, 2002, Pages 4324-4329

  Groussin, Lionel ^a,b,c,d   Jullian, Eric ^a,b,c,d   Perlemoine, Karine ^a,b,c,d   Louvel, Albert ^a,b,c,d   Leheup, Bruno ^a,b,c,d   Luton, Jean Pierre ^a,b,c,d   Bertagna, Xavier ^a,b,c,d   Bertherat, Jérôme ^a,b,c,d  

^a Section of Radiology   (France)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

^c INSTITUT COCHIN   (France)

^d Hôpital Cochin ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; DEXAMETHASONE; PRASTERONE SULFATE; TESTOSTERONE;

ADOLESCENT; ADRENAL CORTEX ADENOMA; ADRENAL CORTEX HYPERFUNCTION; ADRENALECTOMY; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CORTICOTROPIN BLOOD LEVEL; CUSHING SYNDROME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADRENAL CORTEX DISEASES; ADULT; CHILD; CUSHING SYNDROME; CYCLIC AMP-DEPENDENT PROTEIN KINASES; FEMALE; HUMANS; HYDROCORTISONE; MALE; MUTATION; PIGMENTATION DISORDERS; RETROSPECTIVE STUDIES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036736814     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-020592     Document Type: Article

References (20)

1. Stratakis CA, Kirschner LS 1998 Clinical and genetic analysis of primary bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome. Horm Metab Res 30:456-463
2. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695
3. Lacroix A, Bolte E, Tremblay J, Dupre J, Poitras P, Fournier H, Garon J, Garrel D, Bayard F, Taillefer R, Flanagan RJ, Hamet P 1992 Gastric inhibitory polypeptide-dependent cortisol hypersecretion-a new cause of Cushing's syndrome. N Engl J Med 327:974-980
4. Reznik Y, Allali-Zerah V, Chayvialle JA, Leroyer R, Leymarie P, Travert G, Lebrethon MC, Budi I, Balliere AM, Mahoudeau J 1992 Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide. N Engl J Med 327:981-986
5. Lacroix A, Ndiaye N, Tremblay J, Hamet P 2001 Ectopic and abnormal hormone receptors in adrenal Cushing's syndrome. Endocr Rev 22:75-110
6. Meador CK, Bowdoin B, Owen WC, Farmer TA 1967 Primary adrenocortical nodular dysplasia: a rare cause of Cushing's syndrome. J Clin Endocrinol Metab 27:1255-1263
7. Carney JA, Young WF 1992 Primary pigmented nodular adrenocortical disease and its associated conditions. Endocrinologist 2:6-21
8. Stratakis CA, Sarlis N, Kirschner LS, Carney JA, Doppman JL, Nieman LK, Chrousos GP, Papanicolaou DA 1999 Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Intern Med 131:585-591
9. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL 1985 The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 64:270-283
10. 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
11. 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
12. 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
13. Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT 2000 Mutations in the protein kinase A R1α regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest 106:R31-R38
14. Knudson AG 1993 Antioncogenes and human cancer. Proc Natl Acad Sci USA 90:10914-10921
15. Barrande G, Pittino-Lungo M, Coste J, Ponvert D, Bertagna X, Luton JP, Bertherat J 2000 Hormonal and metabolic effects of radiotherapy in acromegaly: long-term results in 128 patients followed in a single center. J Clin Endocrinol Metab 85:3779-3785
16. Luton JP, Martinez M, Coste J, Bertherat J 2000 Outcome in patients with adrenal incidentaloma selected for surgery: an analysis of 88 cases investigated in a single clinical center. Eur J Endocrinol 143:111-117
17. Luton JP, Cerdas S, Billaud L, Thomas G, Guilhaume B, Bertagna X, Laudat MH, Louvel A, Chapuis Y, Blondeau P, Bricaire H 1990 Clinical features of adrenocortical carcinoma, prognostic factors, and the effect of mitotane therapy. N Engl J Med 322:1195-1201
18. Gicquel C, Bertagna X, Gaston V, Coste J, Louvel A, Baudin E, Bertherat J, Chapuis Y, Duclos JM, Schlumberger M, Plouin PF, Luton JP, Le Bouc Y 2001 Molecular markers and long-term recurrences in a large cohort of patients with sporadic adrenocortical tumors. Cancer Res 61:6762-6767
19. Dahle MK, Knutsen HK, Tasken KA, Pilz R, Tasken K 2001 Cyclic AMP regulates expression of the RI α subunit of cAMP-dependent protein kinase through an alternatively spliced 5′ UTR. Eur J Biochem 268:5920-5929
20. Fogt F, Zimmerman RL, Hartmann CJ, Brown CA, Narula N 2002 Genetic alterations of Carney complex are not present in sporadic cardiac myxomas. Int J Mol Med 9:59-60