Mutations in regulatory subunit type 1A of cyclic adenosine 5′-monophosphate-dependent protein kinase (PRKAR1A): Phenotype analysis in 353 patients and 80 different genotypes

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 6, 2009, Pages 2085-2091

  Bertherat, Jérôme ^a,b,c   Horvath, Anélia ^d   Groussin, Lionel ^a,b,c   Grabar, Sophie ^b,c   Boikos, Sosipatros ^d   Cazabat, Laure ^a   Libe, Rosella ^a,c   René Corail, Fernande ^a,b   Stergiopoulos, Sotirios ^d   Bourdeau, Isabelle ^d   Bei, Thalia ^d   Clauser, Eric ^a,c   Calender, Alain ^e   Kirschner, Lawrence S ^f   Bertagna, Xavier ^a,b,c   Carney, J Aidan ^g   Stratakis, Constantine A ^d  

^a CNRS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Hôpital Cochin ^*  (France)

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

^e UNIVERSITÉ LYON 1   (France)

^f OHIO STATE UNIVERSITY   (United States)

^g MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE 1; CYCLIC AMP DEPENDENT PROTEIN KINASE 1A; DNA; MESSENGER RNA; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ACROMEGALY; ADOLESCENT; ADRENAL CORTEX TUMOR; ADULT; AGED; ARTICLE; CARNEY COMPLEX; CHILD; COMORBIDITY; DISEASE SEVERITY; DNA DETERMINATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC EPIDEMIOLOGY; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GONAD TUMOR; HEART MYXOMA; HUMAN; INDEL MUTATION; INFANT; LENTIGINOSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYXOMA; NEURILEMOMA; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA ANALYSIS; SCHOOL CHILD; SEX DIFFERENCE; THYROID TUMOR;

EID: 66749184725     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-2333     Document Type: Article

References (39)

1. Michels VV 1986 A new inherited syndrome with cardiac, cutaneous, and endocrine involvement. Mayo Clin Proc 61:224-225 (Pubitemid 16091375)
2. 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 (Pubitemid 16247109)
3. Boikos SA, Stratakis CA 2007 Carney complex: the first 20 years. Curr Opin Oncol 19:24-29 (Pubitemid 44885596)
4. Carney JA 1995 Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Semin Dermatol 14:90-98
5. Stratakis CA, Carney JA, Lin JP, Papanicolaou DA, Karl M, Kastner DL, Pras E, Chrousos GP 1996 Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 97:699-705 (Pubitemid 26057088)
6. OMIM no.160980 http://www.ncbi.nlm.nih.gov/omim/
7. Conroy S, Jenkins D, Stratakis C, Wassif WS, Cooper J 2004 Atrial myxoma: a cardiocutaneous syndrome. Hosp Med 65:56-57 (Pubitemid 38938671)
8. Kojima S, Sumiyoshi M, Watanabe Y, Suwa S, Matsumoto M, Nakata Y, Daida H 2005 A Japanese case of familial cardiac myxoma associated with a mutation of the PRKAR1α gene. Intern Med 44:607-610 (Pubitemid 40932837)
9. Skamrov AV, Feoktistova ES, Khaspekov GL, Kovalevskiǐ DA, Goriunova LE, Bibilashvili RS, Vinnitskiǐ LI, Sheremet'eva GF, Nechaenko MA 2003 [PRKAR1A gene mutations in two patients with myxoma syndrome (Carney complex)]. Kardiologiia 43:77-82
10. Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Muschke P 2007 Male infertility as a component of Carney complex. Andrologia 39:196-197
11. Yoon HD, Shon HS 2003 A typical Korean case of Carney complex. Korean J Intern Med 18:260-265
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. 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 (Pubitemid 32000777)
14. 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
15. Robinson-White A, Hundley TR, Shiferaw M, Bertherat J, Sandrini F, Stratakis CA 2003 Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Hum Mol Genet 12:1475-1484 (Pubitemid 36857296)
16. 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 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 71:1433-1442 (Pubitemid 36018745)
17. Nadella KS, Kirschner LS 2005 Disruption of protein kinase A regulation causes immortalization and dysregulation of D-type cyclins. Cancer Res 65:10307-10315 (Pubitemid 41743723)
18. Robinson-White AJ, Leitner WW, Aleem E, Kaldis P, Bossis I, Stratakis CA 2006 PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes. Cancer Res 66:10603-10612 (Pubitemid 44799784)
19. 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
20. 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
21. 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 Mut 29:633-639
22. Malchoff CD 2000 Editorial: Carney complex-clarity and complexity. J Clin Endocrinol Metab 85:4010-4012
23. Nesterova MV, Johnson N, Cheadle C, Bates SE, Mani S, Stratakis CA, Khan IU, Kahn I, Gupta RK, Cho-Chung YS 2006 Autoantibody cancer biomarker: extracellular protein kinase A. Cancer Res 66:8971-8974 (Pubitemid 44521113)
24. 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, Libe 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 (Pubitemid 43980600)
25. 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 (Pubitemid 46094164)
26. Horvath A, Mericq V, Stratakis CA 2008 Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med 358:750-752
27. Meoli E, Bossis I, Cazabat L, Mavrakis M, Horvath A, Stergiopoulos S, Shiferaw ML, Fumey G, Perlemoine K, Muchow M, Robinson-White A, Weinberg F, Nesterova M, Patronas Y, Groussin L, Bertherat J, Stratakis CA 2008 Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors. Cancer Res 68:3133-3141
28. Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT 2004 Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci USA 101:14222-14227 (Pubitemid 39305057)
29. 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 15:2962-2971 (Pubitemid 44446815)
30. Liu J, Matyakhina L, Han Z, Sandrini F, Bei T, Stratakis CA, Papadopoulos V 2003 Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues. FASEB J 17:1189-1191
31. Matyakhina L, Pack S, Kirschner LS, Pak E, Mannan P, Jaikumar J, Taymans SE, Sandrini F, Carney JA, Stratakis CA 2003 Chromosome 2 (2p16) abnormalities in Carney complex tumours. J Med Genet 40:268-277 (Pubitemid 36506440)
32. Rosenberg D, Groussin L, Bertagna X, Bertherat J 2002 cAMP pathway alterations from the cell surface to the nucleus in adrenocortical tumors. Endocr Res 28:765-775 (Pubitemid 36050044)
33. Cazabat L, Ragazzon B, Groussin L, Bertherat J 2006 PRKAR1A mutations in primary pigmented nodular adrenocortical disease. Pituitary 9:211-219 (Pubitemid 44742282)
34. Stratakis CA 2007 Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: the NIH studies. Horm Metab Res 39:467-473 (Pubitemid 46999856)
35. Grumbach MM, Biller BM, Braunstein GD, Campbell KK, Carney JA, Godley PA, Harris EL, Lee JK, Oertel YC, Posner MC, Schlechte JA, Wieand HS 2003 Managementof the clinically inapparent adrenal mass ("incidentaloma"). Ann Intern Med 138:424-429 (Pubitemid 36262654)
36. Amieux PS, McKnight GS 2002 The essential role of RIαin the maintenance of regulated PKA activity. Ann NY Acad Sci 968:75-95 (Pubitemid 34721873)
37. 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 (Pubitemid 39665482)
38. 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 (Pubitemid 40740784)
39. 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 (Pubitemid 40007253)