Pseudohypoparathyroidism and GNAS epigenetic defects: Clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 2, 2010, Pages 651-658

  Mantovani, Giovanna ^a   De Sanctis, Luisa ^b   Barbieri, Anna Maria ^a   Elli, Francesca M ^a   Bollati, Valentina ^a   Vaira, Valentina ^a   Labarile, Pamela ^a   Bondioni, Sara ^a   Peverelli, Erika ^a   Lania, Andrea G ^a   Beck Peccoz, Paolo ^a   Spada, Anna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALBRIGHT SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; DNA METHYLATION; EPIGENETICS; FEMALE; GENE; GENE CLUSTER; GENE DELETION; GENOME IMPRINTING; GNAS GENE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD;

EID: 76149108406     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0176     Document Type: Article

References (32)

1. Weinstein LS, Yu S, Warner DR, Liu J 2001 Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocr Rev 22:675-705
2. Mantovani G, Spada A 2006 Mutations in the Gs α gene causing hormone resistance. Best Pract Res Clin Endocrinol Metab 20:501-513
3. Aldred MA, Trembath RC 2000 Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 16:183-189
4. Lania A, Mantovani G, Spada A 2001 G protein mutations in endocrine diseases. Eur J Endocrinol 145:543-559
5. Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, Loli P, Beck-Peccoz P, Spada A 2003 Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs α gene. J Clin Endocrinol Metab 88:4070-4074
6. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA 2003 Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 88:4059-4069
7. Levine MA, Downs Jr RW, Singer M, Marx SJ, Aurbach GD, Spiegel AM 1980 Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 94:1319-1324
8. Bastepe M, Jüppner H 2005 GNAS locus and pseudohypoparathyroidism. Horm Res 63:65-74
9. sα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 88:4336-4341
10. Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S, Lania AG, Beck-Peccoz P, Spada A 2007 Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 92:3738-3742
11. Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M 2005 A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet 76:804-814
12. Bastepe M, Fröhlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 112:1255-1263
13. Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H 2005 Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 37:25-27
14. Juppner H, Bastepe M 2006 Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism. J Pediatr Endocrinol Metab 19(Suppl 2):641-646
15. Bastepe M 2008 The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol 626:27-40
16. Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT 2001 Imprinting of the Gαs gene GNAS in the pathogenesis of acromegaly. J Clin Invest 107:R31-R36
17. Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A 2002 The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87: 4736-4740
18. Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA 2002 Paternal imprinting of Gα(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 296:67-72
19. de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M 2007 Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright hereditary osteodystrophy. J Clin Endocrinol Metab 92:2370-2373
20. Mariot V, Maupetit-Méhouas S, Sinding C, Kottler ML, Linglart A 2008 A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. J Clin Endocrinol Metab 93:661-665
21. Unluturk U, Harmanci A, Babaoglu M, Yasar U, Varli K, Bastepe M, Bayraktar M 2008 Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. Am J Med Sci 336:84-90
22. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A 2000 Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 85:4243-4248
23. Weinhaeusel A, Thiele S, Hofner M, Hiort O, Noehammer C 2008 PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. Clin Chem 54:1537-1545
24. Kim SJ, Gonen D, Hanna GL, Leventhal BL, Cook Jr EH 2000 Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1. Mol Cell Probes 14:191-194
25. Bollati V, Baccarelli A, Hou L, Bonzini M, Fustinoni S, Cavallo D, Byun HM, Jiang J, Marinelli B, Pesatori AC, Bertazzi PA, Yang AS 2007 Changes in DNA methylation patterns in subjects exposed to low-dose benzene. Cancer Res 67:876-880
26. Lania AG, Mantovani G, Ferrero S, Pellegrini C, Bondioni S, Peverelli E, Braidotti P, Locatelli M, Zavanone ML, Ferrante E, Bosari S, Beck-Peccoz P, Spada A 2004 Proliferation of transformed somatotroph cells related to low or absent expression of PKA regulatory subunit 1A protein. Cancer Res 64:9193-9198
27. Mantovani G, Bondioni S, Alberti L, Gilardini L, Invitti C, Corbetta S, Zappa MA, Ferrero S, Lania AG, Bosari S, Beck-Peccoz P, Spada A 2009 PKA regulatory subunits in human adipose tissue: decreased R2B expression and activity in adipocytes from obese subjects. Diabetes 58:620-626
28. de Sanctis L, Vai S, Andreo MR, Romagnolo D, Silvestro L, de Sanctis C 2004 Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. J Clin Endocrinol Metab 89: 1650-1655
29. Wilson LC 2006 Albright's hereditary osteodystrophy. J Pediatr Endocrinol Metab 19(Suppl 2):671-673
30. Farfel Z, Friedman E 1986 Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Ann Intern Med 105:197-199
31. Mantovani G, Bondioni S, Locatelli M, Pedroni C, Lania AG, Ferrante E, Filopanti M, Beck-Peccoz P, Spada A 2004 Biallelic expression of the Gsα gene in human bone and adipose tissue. J Clin Endocrinol Metab 89:6316 -6319
32. Chen M, Wang J, Dickerson KE, Kelleher J, Xie T, Gupta D, Lai EW, Pacak K, Gavrilova O, Weinstein LS 2009 Central nervous system imprinting of the G protein G(s)α and its role in metabolic regulation. Cell Metab 9:548-555