Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 2, 2010, Pages 765-771

  Fernandez Rebollo, Eduardo ^a,g   García Cuartero, Beatriz ^b   Garin, Intza ^a,c   Largo, Cristina ^d   Martínez, Francisco ^e   Garcia Lacalle, Concepcion ^b   Castaño, Luis ^a,c,f   Bastepe, Murat ^g   De Nanclares, Guiomar Pérez ^a,c  

^a HOSPITAL DE CRUCES   (Spain)

^b Hospital de Leganes   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d Genetadi Biotech   (Spain)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

^f UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; MICROSATELLITE DNA;

ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC ERROR; DNA METHYLATION; EXON; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC POLYMORPHISM; GENOME IMPRINTING; GNAS GENE; HORMONE RESISTANCE; HUMAN; INFANT; INTRON; MICROSATELLITE MARKER; PARENT; PHENOTYPE; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1A; PSEUDOHYPOPARATHYROIDISM TYPE 1B; REAL TIME POLYMERASE CHAIN REACTION;

EID: 76149124185     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1581     Document Type: Article

References (28)

1. Albright F, Burnett CH, Smith PH, Parson W 1942 Pseudohypoparathyroidsm: an example of "Seabright syndrome." Endocrinology 30:922-932
2. Kozasa T, Itoh H, Tsukamoto T, Kaziro Y 1988 Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci USA 85:2081-2085
3. 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
4. Wemeau JL, Balavoine AS, Ladsous M, Velayoudom-Cephise FL, Vlaeminck-Guillem V 2006 Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism. J Pediatr Endocrinol Metab 19(Suppl 2):653-661
5. Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, Spiegel AM 1990 Mutations of the Gs α-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 87:8287-8290
6. Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA 1990 Mutation in the gene encoding the stimulatory Gprotein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 322:1412-1419
7. Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L 2002 Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy. Am J Med Genet 113:167-172
8. Fernandez-Rebollo E, Barrio R, Perez-Nanclares G, Carcavilla A, Garin I, Castano L, de Nanclares GP 2008 New mutation type in pseudohypoparathyroidism type Ia. Clin Endocrinol (Oxf) 69:705-712
9. Davies SJ, Hughes HE 1993 Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30:101-103
10. sα gene mutations in Albright's hereditary osteodystrophy. J Med Genet 31:835-839
11. Levine MA, Downs Jr RW, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM 1983 Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 74:545-556
12. Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS 2000 A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 106:1167-1174
13. Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H 2001 Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprintedGNAS1 locus. Hum Mol Genet 10:1231-1241
14. 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
15. 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
16. 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
17. 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's hereditary osteodystrophy. J Clin Endocrinol Metab 92:2370-2373
18. Greulich WW, Pyle SI 1959 Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford, CA: Stanford University Press; 125-183
19. Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S 2004 Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 101:17765-17770
20. Conde L, Montaner D, Burguet-Castell J, Tárraga J, Medina I, Al-Shahrour F, Dopazo J 2007 ISACGH: a web-based environment for the analysis of Array CGH and gene expression which includes functional profiling. Nucleic Acids Res 35:W81-W85
21. Díaz-Uriarte R, Rueda OM 2007 ADaCGH: a parallelized web-based application and R package for the analysis of aCGH data. PLoS ONE 2:e737
22. Ginzinger DG 2002 Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream. Exp Hematol 30:503-512
23. Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR 2009 Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet 18:1924-1936
24. Deininger PL, Batzer MA 1999 Alu repeats and human disease. Mol Genet Metab 67:183-193
25. Shaw CJ, Lupski JR 2004 Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 13(Spec 1):R57-R64
26. Emanuel BS 2008 Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev 14:11-18
27. Siegel DH, Sybert VP 2006 Mosaicism in genetic skin disorders. Pediatr Dermatol 23:87-92
28. Bernards A, Gusella JF 1994 The importance of genetic mosaicism in human disease. N Engl J Med 331:1447-1449