Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

New England Journal of Medicine

Volumn 364, Issue 23, 2011, Pages 2218-2226

  Linglart, Agnès ^a,b,h,i   Menguy, Christine ^a   Couvineau, Alain ^c   Auzan, Colette ^a,b,d   Gunes, Yasemin ^a   Cancel, Mathilde ^a   Motte, Emmanuelle ^a   Pinto, Graziella ^e   Chanson, Philippe ^h,i   Bougnères, Pierre ^a,b,h,i   Clauser, Eric ^b,d,f   Silve, Caroline ^a,b,g,h,i  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f Hôpital Cochin ^*  (France)

^g BICHAT HOSPITAL   (France)

^h BICÊTRE HOSPITAL   (France)

ⁱ UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; FOLLITROPIN; GUANINE NUCLEOTIDE BINDING PROTEIN; LUTEINIZING HORMONE; PARATHYROID HORMONE; THYROTROPIN; THYROXINE;

ACRODYSOSTOSIS; ADULT; ALBRIGHT SYNDROME; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC CODE; GERM LINE; HORMONE RESISTANCE; HUMAN; MALE; PATHOGENESIS; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM;

EID: 79958182720     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1012717     Document Type: Article

References (25)

1. Spiegel AM, Weinstein LS. Inherited diseases involving G proteins and G protein-coupled receptors. Annu Rev Med 2004;55:27-39. (Pubitemid 38316714)
2. Spaulding SW. The ways in which hormones change cyclic adenosine 3′,5′-monophosphate- dependent protein kinase subunits, and how such changes affect cell behavior. Endocr Rev 1993;14:632-50. (Pubitemid 23320390)
3. Taskén K, Skålhegg BS, Taskén KA, et al. Structure, function, and regulation of human cAMP-dependent protein kinases. Adv Second Messenger Phosphoprotein Res 1997;31:191-204.
4. Taylor SS, Buechler JA, Yonemoto W. cAMP-dependent protein kinase: framework for a diverse family of regulatory enzymes. Annu Rev Biochem 1990;59:971-1005. (Pubitemid 120024460)
5. Bastepe M, Jüppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 2005;63:65-74. (Pubitemid 40591467)
6. Maroteaux P, Merr M, Les Maladies osseuses de l'enfant. 4th ed. Paris: Flammarion Médecine, 2002.
7. Ablow RC, Hsia YE, Brandt IK. Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. AJR Am J Roentgenol 1977;128:95-9.
8. Graham JM Jr, Krakow D, Tolo VT, Smith AK, Lachman RS. Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol 2001; 31:2-9. (Pubitemid 32124448)
9. Wilson LC, Oude Luttikhuis ME, Baraitser M, Kingston HM, Trembath RC. Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. J Med Genet 1997;34:133-6. (Pubitemid 27077942)
10. Vlaeminck-Guillem V, D'Herbomez M, Pigny P, et al. Pseudohypoparathyroidism Ia and hypercalcitoninemia. J Clin Endocrinol Metab 2001;86:3091-6. (Pubitemid 32673471)
11. Wägar G, Lehtivuori J, Salvén I, Backman R, Sivula A. Pseudohypoparathyroidism associated with hypercalcitoninaemia. Acta Endocrinol (Copenh) 1980;93:43-8. (Pubitemid 10217282)
12. Kim C, Cheng CY, Saldanha SA, Taylor SS. PKA-I holoenzyme structure reveals a mechanism for cAMP-dependent activation. Cell 2007;130:1032-43. (Pubitemid 47410267)
13. Bertherat J, Horvath A, Groussin L, et al. Mutations in regulatory subunit type1A of cyclic adenosine 5′-monophosphatedependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009;94:2085-91.
14. Kim C, Xuong NH, Taylor SS. Crystal structure of a complex between the catalytic and regulatory (RIalpha) subunits of PKA. Science 2005;307:690-6. (Pubitemid 40194632)
15. Montminy MR, Gonzalez GA, Yamamoto KK. Regulation of cAMP-inducible genes by CREB. Trends Neurosci 1990;13: 184-8. (Pubitemid 20145139)
16. 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;71:1433-42. (Pubitemid 36018745)
17. Kopperud R, Krakstad C, Selheim F, Døskeland SO. cAMP effector mechanisms: novel twists for an 'old' signaling system. FEBS Lett 2003;546:121-6.
18. Skålhegg BS, Landmark BF, Døskeland SO, Hansson V, Lea T, Jahnsen T. Cyclic AMP-dependent protein kinase type I mediates the inhibitory effects of 3¢,5¢- cyclic adenosine monophosphate on cell replication in human T lymphocytes. J Biol Chem 1992;267:15707-14.
19. Su Y, Dostmann WR, Herberg FW, et al. Regulatory subunit of protein kinase A: structure of deletion mutant with cAMP binding domains. Science 1995;269:807-13.
20. van Daalen Wetters T, Coffino P. Reversion of an S49 cell cyclic AMP-dependent protein kinase structural gene mutant occurs primarily by functional elimination of mutant gene expression. Mol Cell Biol 1983;3:250-6.
21. Horvath A, Stratakis CA. Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. Rev Endocr Metab Disord 2008;9:1-11.
22. Bertherat J, Groussin L, Sandrini F, et al. Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. Cancer Res 2003; 63:5308-19. (Pubitemid 37139845)
23. Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000;26:89-92.
24. Carney JA, Boccon-Gibod L, Jarka DE, et al. Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders. Am J Surg Pathol 2001;25:164-76. (Pubitemid 32167498)
25. Tsang KM, Starost MF, Nesterova M, et al. Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone. Proc Natl Acad Sci U S A 2010;107:8683-8.