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

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 1, 2011, Pages

  Libé, Rossella ^a,b,c   Horvath, Anelia ^d   Vezzosi, Delphine ^a,b   Fratticci, Amato ^a,b   Coste, Joel ^c   Perlemoine, Karine ^a,b   Ragazzon, Bruno ^a,b   Guillaud Bataille, Marine ^c   Groussin, Lionel ^a,b,c   Clauser, Eric ^c   Raffin Sanson, Marie Laure ^e   Siegel, Jennifer ^d   Moran, Jason ^d   Drori Herishanu, Limor ^d   Rueda Faucz, Fabio ^d,f   Lodish, Maya ^d   Nesterova, Maria ^d   Bertagna, Xavier ^a,b,c   Bertherat, Jerome ^a,b,c   Stratakis, Constantine A ^d  

^a CNRS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Department of Endocrinology ^*  (France)

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

^e HÔPITAL AMBROISE PARÉ   (France)

^f PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; FORSKOLIN; PHOSPHODIESTERASE; PHOSPHODIESTERASE 11A; UNCLASSIFIED DRUG;

ADOLESCENT; ADRENAL TUMOR; ADULT; ARTICLE; CARNEY COMPLEX; CHILD; EMBRYO; ENDOCRINE DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PHOSPHODIESTERASE 11A GENE; PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENCE; STIMULATION; TESTIS TUMOR;

EID: 78650898282     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1704     Document Type: Article

References (21)

1. 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
2. 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
3. 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
4. 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): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 94:2085-2091
5. Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA 2006 A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 38:794-800
6. 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
7. Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J 2008 Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clin Cancer Res 14:4016-4024
8. Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA 2009 Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res 69:5301-5306
9. Peverelli E, Ermetici F, Filopanti M, Elli FM, Ronchi CL, Mantovani G, Ferrero S, Bosari S, Beck-Peccoz P, Lania A, Spada A 2009 Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients. Eur J Endocrinol 161:687-694
10. Pharoah PD, Dunning AM, Ponder BA, Easton DF 2004 Association studies for finding cancer-susceptibility genetic variants. Nat Rev Cancer 4:850-860
11. Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA 2010 Mutations and polymorphisms in the gene encoding regulatory subunit type 1-α of protein kinase A (PRKAR1A): an update. Hum Mutat 31:369-379
12. Nadeau JH 2001 Modifier genes in mice and humans. Nat Rev Genet 2:165-174
13. Nadeau JH 2003 Modifier genes and protective alleles in humans and mice. Curr Opin Genet Dev 13:290-295
14. Haston CK, Hudson TJ 2005 Finding genetic modifiers of cystic fibrosis. N Engl J Med 353:1509-1511 (Pubitemid 41400926)
15. Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR 2005 Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med 353:1443-1453
16. Badano JL, Katsanis N 2002 Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet 3:779-789
17. Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN 2003 Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet 34:91-96 (Pubitemid 36548797)
18. Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng YZ, Li WP, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley W 2007 Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest 117:457-463
19. Krausz C, Looijenga LH 2008 Genetic aspects of testicular germ cell tumors. Cell Cycle 7:3519-3524
20. Oosterhuis JW, Looijenga LH 2005 Testicular germ-cell tumours in a broader perspective. Nat Rev Cancer 5:210-222
21. Crockford GP, Linger R, Hockley S, Dudakia D, Johnson L, Huddart R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Bonaïti-Pellié C, Heidenreich A, Albers P, Olah E, Geczi L, Bodrogi I, Ormiston WJ, Daly PA, Guilford P, Fosså SD, Heimdal K, Tjulandin SA, Liubchenko L, Stoll H, Weber W, Forman D, Oliver T, Einhorn L, McMaster M, Kramer J, Greene MH, Weber BL, Nathanson KL, Cortessis V, Easton DF, Bishop DT, Stratton MR, Rapley EA 2006 Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. Hum Mol Genet 15:443-451