Acrodysostosis

Hormone and Metabolic Research

Volumn 44, Issue 10, 2012, Pages 749-758

  Silve, C ^a,b   Clauser, E ^c,d   Linglart, A ^a  

^a BICÊTRE HOSPITAL   (France)

^b BICHAT HOSPITAL   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

GNAS Gs ; hormonal resistance; parathyroid hormone (PTH) PTHrP; PDE; PRKAR1A; proteine kinase A; pseudohypoparathyroidism (PHP)

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; G PROTEIN COUPLED RECEPTOR; PARATHYROID HORMONE RECEPTOR 1; PHOSPHODIESTERASE;

ACRODYSOSTOSIS; AUTOSOMAL DOMINANT INHERITANCE; BONE DEVELOPMENT; BRACHYDACTYLY; CALVARIA; CARNEY COMPLEX; CELL LINE; CLINICAL FEATURE; DOWNSTREAM PROCESSING; DYSOSTOSIS; ENZYME ACTIVITY; GAIN OF FUNCTION MUTATION; GENE; GENE FUNCTION; GENE STRUCTURE; HEARING LOSS; HORMONE RESISTANCE; HUMAN; HYPOGONADISM; HYPOTHYROIDISM; INTRACELLULAR SIGNALING; LOSS OF FUNCTION MUTATION; MENTAL DEFICIENCY; NONHUMAN; OBESITY; OTITIS MEDIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PRKAR1A GENE; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; REVIEW; SHORT STATURE;

ANIMALS; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; DYSOSTOSES; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INTELLECTUAL DISABILITY; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SIGNAL TRANSDUCTION;

EID: 84866090084     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0032-1316330     Document Type: Review

References (58)

1. Giedion A. Zapfenepiphysen. Naturgeschichte und diagnostische Bedeutung einer Störung des enchondralen Wachstums. ErgebnRadiol: 1968; 1 59 124
2. Maroteaux P, Malamut G. Acrodysostosis. Presse Med: 1968; 76 2189 2192
3. Robinow M, Pfeiffer R A, Gorlin R J, McKusick V A, Renuart A W, Johnson G F, Summitt R L. Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child: 1971; 121 195 203
4. Giedion A. Acrodysplasias. In: Kaufmann H J. (ed.). Progress in Pediatric Radiology. Vol 4 Intrinsic Diseases of Bones. New York S. Karger: 1973; 325 345
5. Maroteaux P, Le Merrer M, Faure C, Fessard C. Les Maladies Osseuses de l'Enfant. 4 ed. Paris Médecine-Sciences Flammarion: 2002
6. Poznanski A K, Werder E A, Giedion A, Allan Martin R T, Helen Shaw B A. The pattern of shortening of the bones of the hand in PHP and PPHP - A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. Radiology: 1977; 123 707 718
7. Jüppner H, Schipani E, Silve C. Jansen's metaphyseal chondrodysplasia and Blomstrand's lethal chondrodysplasia: two genetic disorders caused by PTH/PTHrP receptor mutations. In: Bilezikian J, Raisz L G, Rodan G A. (ed.). Principles of bone biology. San Diego Academic Press: 2002; 1117 1136
8. Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med: 2011; 364 2218 2226
9. Ablow R C, Hsia Y E, Brandt I K. Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. AJR Am J Roentgenol: 1977; 128 95 99
10. Butler M G, Rames L J, Wadlington W B. Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. Am J Med Genet: 1988; 30 971 980
11. Graham J M Jr, Krakow D, Tolo V T, Smith A K, Lachmann R S. Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. Pediatr Radiol: 2001; 31 2 9
12. Hernandez R M, Miranda A, Kofman-Alfaro S. Acrodysostosis in two generations: an autosomal dominant syndrome. Clin Genet: 1991; 39 376 382
13. Reiter S. Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. Pediatr Radiol: 1978; 7 53 55
14. Sheela S R, Perti A, Thomas G. Acrodysostosis: autosomal dominant transmission. Indian Pediatr: 2005; 42 822 826
15. Steiner R D, Pagon R A. Autosomal dominant transmission of acrodysostosis. Clin Dysmorphol: 1992; 1 201 206
16. Taillet-Bellemere C, Maroteaux P. Acrodysostosis in a sister and brother born to normal parents. Ann Pediatr (Paris): 1991; 38 31 36
17. Wilson L C, Oude Luttikhuis M E, Baraitser M, Kingston H M, Trembath R C. Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. J Med Genet: 1997; 34 133 136
18. Davies S J, Hughes H E. Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? Clin Dysmorphol: 1992; 1 207 215
19. Niikawa N, Matsuda I, Ohsawa T, Kajii T. Acrodysostosis and blue eyes. Hum Genet: 1980; 53 285
20. Frey G, Martin J, Dietel K. Acrodysostosis - an autosomal dominant peripheral dysplasia. Kinderarztl Prax: 1982; 50 149 153
21. Kim C, Cheng C Y, Saldanha S A, Taylor S S. PKA-I holoenzyme structure reveals a mechanism for cAMP-dependent activation. Cell: 2007; 130 1032 1043
22. Spaulding S W. 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; 14 632 650
23. Tasken K, Skalhegg B S, Tasken K A, Solberg R, Knutsen H K, Levy F O, Sandberg M, Orstavik S, Larsen T, Johansen A K, Vang T, Schrader H P, Reinton N T, Torgersen K M, Hansson V, Jahnsen T. Structure, function, and regulation of human cAMP-dependent protein kinases. Adv Second Messenger Phosphoprotein Res: 1997; 31 191 204
24. Taylor S S, Buechler J A, Yonemoto W. cAMP-dependent protein kinase: framework for a diverse family of regulatory enzymes. Annu Rev Biochem: 1990; 59 971 1005
25. Taylor S S, Kim C, Cheng C Y, Brown S H, Wu J, Kannan N. Signaling through cAMP and cAMP-dependent protein kinase: diverse strategies for drug design. Biochim Biophys Acta: 2008; 1784 16 26
26. Correll L A, Woodford T A, Corbin J D, Mellon P L, McKnight G S. Functional characterization of cAMP-binding mutations in type I protein kinase. J Biol Chem: 1989; 264 16672 16678
27. Clegg C H, Correll L A, Cadd G G, McKnight G S. Inhibition of intracellular cAMP-dependent protein kinase using mutant genes of the regulatory type I subunit. J Biol Chem: 1987; 262 13111 13119
28. Steinberg R A, Gorman K B, Ogreid D, Doskeland S O, Weber I T. Mutations that alter the charge of type I regulatory subunit and modify activation properties of cyclic AMP-dependent protein kinase from S49 mouse lymphoma cells. J Biol Chem: 1991; 266 3547 3553
29. Willis B S, Niswender C M, Su T, Amieux P S, McKnight G S. Cell-type specific expression of a dominant negative PKA mutation in mice. PLoS One: 2011; 6 e18772
30. Shuntoh H, Steinberg R A. Analysis of the dominance of mutations in cAMP-binding sites of murine type I cAMP-dependent protein kinase in activation of kinase from heterozygous mutant lymphoma cells. J Cell Physiol: 1991; 146 86 93
31. Gorman K B, Steinberg R A. Spectrum of spontaneous missense mutations causing cyclic AMP-resistance phenotypes in cultured S49 mouse lymphoma cells differs markedly from those of mutations induced by alkylating mutagens. Somat Cell Mol Genet: 1994; 20 301 311
32. 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 L S, Bertagna X, Carney J A, Stratakis C A. 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: 2009; 94 2085 2091
33. Bossis I, Voutetakis A, Bei T, Sandrini F, Griffin K J, Stratakis C A. Protein kinase A and its role in human neoplasia: the Carney complex paradigm. Endocr Relat Cancer: 2004; 11 265 280
34. Tsang K M, Starost M F, Nesterova M, Boikos S A, Watkins T, Almeida M Q, Harran M, Li A, Collins M T, Cheadle C, Mertz E L, Leikin S, Kirschner L S, Robey P, Stratakis C A. Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone. Proc Natl Acad Sci USA: 2010; 107 8683 8688
35. Chang Y F, Imam J S, Wilkinson M F. The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem: 2007; 76 51 74
36. Greene E L, Horvath A D, Nesterova M, Giatzakis C, Bossis I, Stratakis C. In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. Hum Mutat: 2008; 29 633 639
37. Meoli E, Bossis I, Cazabat L, Mavrakis M, Horvath A, Sterrgiopoulos S, Shiferaw M L, Fumey G, Perlemoine K, Muchow M, Robinson-White A, Weinberg F, Nesterova M, Patromas Y, Grousin L, Bertherat J, Stratakis C. Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors. Cancer Res: 2008; 68 3133 3141
38. Karaplis A C, Goltzman D. PTH and PTHrP effects on the skeleton. Rev Endocr Metab Disord: 2000; 1 331 341
39. Kronenberg H M. Developmental regulation of the growth plate. Nature: 2003; 423 332 336
40. Silve C A. Cup Half-Full or Half-Empty? When PTHrP Levels Matter. IBMS BoneKEy: 2010; 7 325 332
41. Wysolmerski J J, Stewart A F. The physiology of parathyroid hormone-related protein: an emerging role as a developmental factor. Annu Rev Physiol: 1998; 60 431 460
42. Gensure R C, Gardella T J, Juppner H. Parathyroid hormone and parathyroid hormone-related peptide, and their receptors. Biochem Biophys Res Commun: 2005; 328 666 678
43. Parnot C, Miserey-Lenkei S, Bardin S, Corvol P, Clauser E. Lessons from constitutively active mutants of G protein-coupled receptors. Trends Endocrinol Metab: 2002; 13 336 343
44. Klopocki E, Hennig B P, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF W, Krüger G, Hiort O, Seemann P, Mundlos S. Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet: 2010; 86 434 439
45. Maass P G, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, Otero M, Tsuchimochi K, Goldring M B, Luft F C, Bähring S. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum Mol Genet: 2010; 19 848 860
46. Decker E, Stellzig-Eisenhauer A, Fiebig B S, Rau C, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Weber BH F. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet: 2008; 83 781 786
47. Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res: 2005; 63 65 74
48. Levine M A. Pseudohypoparathyroidism. In: Bilezikian LR J P, Rodan G A. (eds.). Principles of Bone biology. New York Academic Press: 2002; 1137 1159
49. Linglart A, Carel J C, Garabedian M, Lé T, Mallet E, Kottler M L. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab: 2002; 87 189 197
50. Thiele S, de Sanctis L, Werner R, Grötzinger J, Aydin C, Jüppner H, Bastepe M, Hiort O. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction. Hum Mutat: 2011; 32 653 660
51. Drezner M, Neelon F A, Lebovitz H E. Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. N Engl J Med: 1973; 289 1056 1060
52. Rao D S, Parfitt A M, Kleerekoper M, Pumo B S, Frame B. Dissociation between the effects of endogenous parathyroid hormone on adenosine 3,5-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: an acquired disorder resembling pseudohypoparathyroidism type II. J Clin Endocrinol Metab: 1985; 61 285 290
53. Kruse K, Kracht U, Gopfert G. Response of kidney and bone to parathyroid hormone in children receiving anticonvulsant drugs. Neuropediatrics: 1982; 13 3 9
54. Lee H, Graham J M Jr, Rimoin D L, Lachman R S, Krejci P, Tompson S W, Nelson S F, Krakow D, Cohn D H. Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis. Am J Hum Genet: 2012; 90 746 751
55. Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot A-M, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova J-L, Le Merrer M, Munnich A, Cormier-Daire V. Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis. Am J Hum Genet: 2012; 90 740 745
56. Weinstein L S, Xie T, Qasem A, Wang J, Chen M. The role of GNAS and other imprinted genes in the development of obesity. Int J Obes (Lond): 2010; 34 6 17
57. Temtamy S A, Aglan M S. Brachydactyly. Orphanet J Rare Dis: 2008; 3 15
58. Shore E M, Kaplan F S. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol: 2010; 6 518 527