New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

European Journal of Endocrinology

Volumn 163, Issue 6, 2010, Pages 953-962

  Fernández Rebollo, Eduardo ^a,h   Lecumberri, Beatriz ^b   Garin, Intza ^a,i   Arroyo, Javier ^c   Bernal Chico, Ana ^a   Goñi, Fernando ^d,ap   Orduña, Rosa ^e   Saez F ^j   Sanchez A ^j   Dominguez A ^k   Santana, A ^k   Ruiz, R ^l   Castro, L ^m   Rivas, C ⁿ   Perez O ^o   Molinos, S ^p   Gaztambide, S ^a   Moure, M D ^a   Vela, A ^a   Saez, R ^q   Unanue, G ^q   Menendez E ^r   Anda, A ^r   Pavia, C ^s   Diez Lopez, I ⁱ   Bonet, M ^t   Morales, M J ^u   Zapico, M ^v   Aguirre, M ^w   Munoz M T ^x   Rubio Cabezas, O ^x   Argente, J ^x   Audi, L ^y   Yeste, D ^y   Soriguer, F ^z   Garcia M ^aa   Rodriguez R M ^aa   Goni M J ^aa   Armenta, D ^ab   Gonzalez Duarte, D ^ab   Barrio, R ^ac   Camara A ^ad   Martorell, L ^ae   Suarez L ^ae   Cardona, R ^ae   Gean, E ^ae   Garcia Cuartero B ^af   Pereira, M S ^ag   Rodriguez B ^ag   Azriel, S ^ah   Jimenez J M ^ai   Sentchordi, L ^ai   Espino Aguilar, R ^aj   Beneyto, M ^ak   Alvarez C ^b   Luzuriaga, C ^al   Calvo, M T ^am   Labarta, J I ^am   Saavedra, P ^an   Canete Estrada R ^ao   Guillen Navarro, E ^ap   Guillen, C ^ap   Del Valle, J ^aq   Luque, I ^ar   Menendez A ^ar   Oyarzabal, M ^r   Castaño, Luis ^a,f,g   Pérez De Nanclares, Guiomar ^a,f,i   more..

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c Service of Paediatrics   (Spain)

^d HOSPITAL DE BASURTO   (Spain)

^e HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

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

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

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ HOSPITAL TXAGORRITXU   (Spain)

^j Complejo Hospitalario Dr Negrin ^*  (Spain)

^k HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

^l HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^m HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

ⁿ HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^o HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^p Hospital de Barbanza   (Spain)

^q HOSPITAL DONOSTIA   (Spain)

^r Universidad Pública de Navarra   (Spain)

^s Hospital de Nens   (Spain)

^t HOSPITAL DEL MAR   (Spain)

^u HOSPITAL DO MEIXOEIRO   (Spain)

^v HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^w HOSPITAL GENERAL UNIVERSITARIO DE CIUDAD REAL   (Spain)

^x HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^y HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^z HOSPITAL MATERNO INFANTIL   (Spain)

^aa Hospital Príncipe de Viana   (Spain)

^ab HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^ac HOSPITAL RAMÓN Y CAJAL   (Spain)

^ad HOSPITAL SAN JORGE   (Spain)

^ae HOSPITAL SANT JOAN DE DÉU   (Spain)

^af HOSPITAL SEVERO OCHOA   (Spain)

^ag Hospital Teresa de Herrera   (Spain)

^ah HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^ai HOSPITAL UNIVERSITARIO DE GUADALAJARA   (Spain)

^aj HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^ak HOSPITAL UNIVERSITARIO LA FE   (Spain)

^al HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^am HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^an HOSPITAL UNIVERSITARIO PRÍNCIPE DE ASTURIAS   (Spain)

^ao HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^ap HOSPITAL GENERAL UNIVERSITARIO REINA SOFÍA   (Spain)

^aq HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^ar HOSPITAL VIRGEN DE LA SALUD   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; GNAS PROTEIN, HUMAN; MICROSATELLITE DNA;

ADULT; ALBRIGHT SYNDROME; ALPHA CHAIN; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHILD; CHROMOSOME 20Q; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC RECOMBINATION; GENOME; GENOME IMPRINTING; HORMONE RESISTANCE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPHOSPHATEMIA; HYPOCALCEMIA; MALE; METHYLATION; MICROSATELLITE MARKER; MOLECULAR HYBRIDIZATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD; UNIPARENTAL DISOMY; CHROMOSOME 20; GENETICS; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; METHYLATION; MICROSATELLITE REPEATS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOHYPOPARATHYROIDISM; UNIPARENTAL DISOMY;

EID: 78649826845     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0435     Document Type: Article

References (54)

1. Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. American Journal of Medical Genetics 1980 6 137-143. (doi:10.1002/ajmg.1320060207)
2. Kotzot D. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. American Journal of Medical Genetics 1999 82 265-274. (doi:10.1002/(SICI)1096- 8628(19990129)82:3〈265::AID-AJMG14〉3.0.CO;2-6)
3. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 2000 22 452-459. (doi:10.1002/(SICI)1521-1878(200005)22: 5〈452::AID-BIES7〉3.0.CO;2-K)
4. Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. European Journal of Human Genetics 2006 14 1158-1169. (doi:10.1038/sj.ejhg.5201619)
5. Engel E. Uniparental disomy revisited: the first twelve years. American Journal of Medical Genetics 1993 46 670-674. (doi:10.1002/ajmg.1320460613)
6. Ledbetter DH & Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Human Molecular Genetics 1995 4 1757-1764.
7. Field LL, Tobias R, Robinson WP, Paisey R & Bain S. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. American Journal of Human Genetics 1998 63 1216-1220. (doi:10.1086/302050)
8. Cassidy SB & Schwartz S. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine 1998 77 140-151. (doi:10.1097/ 00005792-199803000-00005)
9. Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K & Spranger S. Origin of uniparental disomy 6: presentation of a new case and review on the literature. Annales de Genetique 2001 44 41-45. (doi:10.1016/S0003-3995(01)01035-8)
10. Kotzot D. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Annales de Genetique 2004 47 251-260. (doi:10.1016/j.anngen. 2004.03.006) (Pubitemid 39158835)
11. Sutton VR & Shaffer LG. Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. American Journal of Medical Genetics 2000 93 381-387. (doi:10.1002/1096-8628(20000828)93:5〈381::AID-AJMG7〉3.0.CO;2-9)
12. Rossignol S, Netchine I, Le Bouc Y & Gicquel C. Epigenetics in Silver-Russell syndrome. Best Practice and Research. Clinical Endocrinology and Metabolism 2008 22 403-414. (doi:10.1016/j.beem.2008.01.012)
13. Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade MF, Landrieu P & Junien C. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. European Journal of Human Genetics 1993 1 19-29.
14. Kotzot D. Complex and segmental uniparental disomy updated. Journal of Medical Genetics 2008 45 545-556. (doi:10.1136/jmg.2008.058016)
15. Kotzot D. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. Journal of Medical Genetics 2001 38 497-507. (doi:10.1136/jmg.38.8.497)
16. Kinard RE, Walton JE & Buckwalter JA. Pseudohypoparathyroidism: report on a family with four affected sisters. Archives of Internal Medicine 1979 139 204-207. (doi:10.1001/archinte.139.2.204)
17. Albright F, Burnett CH, Smith PH & Parson W. Pseudohypoparathyroidsm - an example of "Seabright syndrome". Endocrinology 1942 30 922-932.
18. Weinstein LS. In G Proteins, Receptors and Disease, pp 23-56. Ed. AM Spiegel. New Jersey, 1998.
19. Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM & Levine MA. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. New England Journal of Medicine 1990 322 1412-1419. (doi:10.1056/NEJM199005173222002)
20. sα gene mutations in Albright's hereditary osteodystrophy. Journal of Medical Genetics 1994 31 835-839. (doi:10.1136/jmg.31.11.835)
21. Weinstein LS, Yu S, Warner DR & Liu J. Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocrine Reviews 2001 22 675-705. (doi:10.1210/er.22.5.675)
22. sα) knockout mice is due to tissue-specific imprinting of the gsa gene. PNAS 1998 95 8715-8720. (doi:10.1073/pnas.95.15.8715)
23. Bastepe M. The GNAS locus and pseudohypoparathyroidism. Advances in Experimental Medicine and Biology 2008 626 27-40.
24. Levine MA. In Endocrinology, pp 1133-1153. Eds LJ De Groot & J Jameson. Philadelphia: W.B. Saunders, 2000.
25. Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG & Weinstein LS. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. Journal of Clinical Investigation 2000 106 1167-1174. (doi:10.1172/JCI10431)
26. Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H & Juppner H. 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 imprinted GNAS1 locus. Human Molecular Genetics 2001 10 1231-1241. (doi:10.1093/hmg/10.12.1231)
27. Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD & Juppner H. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. Journal of Clinical Investigation 2003 112 1255-1263. (doi:10.1172/JCI19159)
28. Linglart A, Gensure RC, Olney RC, Juppner H & Bastepe M. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. American Journal of Human Genetics 2005 76 804-814. (doi:10.1086/429932) (Pubitemid 40563102)
29. Bastepe M, Frohlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM & Juppner H. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nature Genetics 2005 37 25-27. (doi:10.1038/ng1560)
30. Bastepe M, Lane AH & Juppner H. Paternal uniparental isodisomy of chromosome 20q - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism. American Journal of Human Genetics 2001 68 1283-1289. (doi:10.1086/320117)
31. sα coding mutations and GNAS imprinting defects. Journal of Medical Genetics 2010 47 276-280. (doi:10.1136/jmg.2009.071001)
32. de Nanclares GP, Fernandez-Rebollo E, Santin I, Garcia- Cuartero B, Gaztambide S, Menendez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Juppner H, Hiort O, Castano L & Bastepe M. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. Journal of Clinical Endocrinology and Metabolism 2007 92 2370-2373. (doi:10.1210/jc.2006-2287)
33. Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J & Singleton A. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Human Molecular Genetics 2007 16 1-14. (doi:10.1093/hmg/ddl436)
34. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE & Beaudet AL. Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics 1988 42 217-226.
35. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G & Junien C. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991 351 665-667. (doi:10.1038/351665a0)
36. Nicholls RD, Pai GS, Gottlieb W & Cantu ES. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Annals of Neurology 1992 32 512-518. (doi:10.1002/ana.410320406)
37. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BC, Otten BJ, Hergersberg M, Werder E, Schoenle E & Schinzel A. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Human Molecular Genetics 1995 4 583-587. (doi:10.1093/hmg/4.4.583)
38. Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Machler M, Prader A & Schinzel A. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. American Journal of Human Genetics 1991 49 1219-1234.
39. Gardner RJ, Robinson DO, Lamont L, Shield JP & Temple IK. Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. Clinical Genetics 1998 54 522-525. (doi:10.1111/j.1399-0004.1998.tb03774.x)
40. Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP & Hirschhorn K. Paternal uniparental disomy for chromosome 14: a case report and review. American Journal of Medical Genetics 1997 70 74-79. (doi:10.1002/(SICI)1096- 8628(19970502)70:1〈74::AID-AJMG14〉3.0.CO;2-U)
41. Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I & Claussen U. Maternal UPD 20 in a hyperactive child with severe growth retardation. European Journal of Human Genetics 1999 7 533-540. (doi:10.1038/sj.ejhg.5200287)
42. Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB & Wollmann HA. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD (20) in a cohort of growth retarded patients. Journal of Medical Genetics 2001 38 86-89. (doi:10.1136/jmg.38.2.86)
43. Salafsky IS, MacGregor SN, Claussen U & von Eggeling F. Maternal UPD20 in an infant from a pregnancy with mosaic trisomy 20. Prenatal Diagnosis 2001 21 860-863. (doi:10.1002/pd.158)
44. Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E & Petersen MB. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. European Journal of Human Genetics 2002 10 694-698. (doi:10.1038/sj.ejhg.5200867)
45. Venditti CP, Hunt P, Donnenfeld A, Zackai E & Spinner NB. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. American Journal of Medical Genetics. Part A 2004 124A 274-279. (doi:10.1002/ajmg.a.20430)
46. Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC & Brueton L. Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. American Journal of Medical Genetics 2002 113 167-172. (doi:10.1002/ajmg.10751)
47. Hsu LY, Kaffe S & Perlis TE. A revisit of trisomy 20 mosaicism in prenatal diagnosis - an overview of 103 cases. Prenatal Diagnosis 1991 11 7-15. (doi:10.1002/pd.1970110103)
48. Wallerstein R, Yu MT, Neu RL, Benn P, Lee BC, Crandall B, Disteche C, Donahue R, Harrison B, Hershey D, Higgins RR, Jenkins LS, Jackson-Cook C, Keitges E, Khodr G, Lin CC, Luthardt FW, Meisner L, Mengden G, Patil SR, Rodriguez M, Sciorra LJ, Shaffer LG, Stetten G, Van Dyke DL & Wang H. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prenatal Diagnosis 2000 20 103-122. (doi:10.1002/(SICI)1097-0223(200002)20:2〈103::AID-PD761〉3.0.CO;2-K)
49. Bruce S, Hannula-Jouppi K, Peltonen J, Kere J & Lipsanen-Nyman M. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. Journal of Clinical Endocrinology and Metabolism 2009 94 579-587. (doi:10.1210/jc.2008-1805)
50. Evans HK, Wylie AA, Murphy SK & Jirtle RL. The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2. Genomics 2001 77 99-104. (doi:10.1006/geno.2001.6612)
51. Vrang N, Meyre D, Froguel P, Jelsing J, Tang-Christensen M, Vatin V, Mikkelsen JD, Thirstrup K, Larsen LK, Cullberg KB, Fahrenkrug J, Jacobson P, Sjostrom L, Carlsson LM, Liu Y, Liu X, Deng HW & Larsen PJ. The imprinted gene neuronatin is regulated by metabolic status and associated with obesity. Obesity 2010 18 1289-1296. (doi:10.1038/oby.2009.361)
52. Plagge A, Gordon E, Dean W, Boiani R, Cinti S, Peters J & Kelsey G. The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding. Nature Genetics 2004 36 818-826. (doi:10.1038/ng1397)
53. Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Rosello M, De La Osa A & Martinez F. Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15. Journal of Inherited Metabolic Disease, 2009. (doi:10.1007/s10545-009-9014-9)
54. Rivolta C, Berson EL & Dryja TP. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Archives of Ophthalmology 2002 120 1566-1571.