Epimutation profiling in Beckwith-Wiedemann syndrome: Relationship with assisted reproductive technology

Clinical Epigenetics

Volumn 5, Issue 1, 2013, Pages

  Tee, Louise ^a   Lim, Derek H K ^a,b   Dias, Renuka P ^a,c   Baudement, Marie Odile ^a   Slater, Amy A ^a   Kirby, Gail ^a,b   Hancocks, Tom ^a   Stewart, Helen ^d   Hardy, Carol ^b   Macdonald, Fiona ^b   Maher, Eamonn R ^a,b,e  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d CHURCHILL HOSPITAL   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Assisted reproductive technology; Beckwith Wiedemann syndrome; Genetics; Imprinting

Indexed keywords

SOMATOMEDIN B RECEPTOR;

ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHILD; CONTROLLED STUDY; EPIMUTATION; GENE; GENE FREQUENCY; GENE INTERACTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IGF2R GENE; INFERTILITY THERAPY; MAJOR CLINICAL STUDY; MALE; MEST GENE; METHYLATION; PHENOTYPE; PLAGL1 GENE; PRIORITY JOURNAL;

EID: 84894749486     PISSN: 18687075     EISSN: 18687083     Source Type: Journal    
DOI: 10.1186/1868-7083-5-23     Document Type: Article

References (40)

1. Reik W, Walter J: Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001, 2:21-32. (Pubitemid 33674766)
2. Netchine I, Rossignol S, Azzi S, Le Bouc Y: Epigenetic anomalies in childhood growth disorders. Nestle Nutr Inst Workshop Ser 2013, 71:65-73.
3. Lim DH, Maher ER: Human imprinting syndromes. Epigenomics 2009, 1:347-369.
4. Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER: Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 1995, 4:2379-2385.
5. Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y: Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005, 37:1003-1007. (Pubitemid 43086160)
6. Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER: Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000, 37:921-926. (Pubitemid 32002888)
7. Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A: Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2009, 17:611-619.
8. Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C: The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet 2006, 43:902-907. (Pubitemid 46080186)
9. Halliday J, Oke K, Breheny S, Algar E, Amor DJ: Beckwith-Wiedemann syndrome and IVF: a case-control study. Am J Hum Genet 2004, 75:526-528. (Pubitemid 39095829)
10. Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER: Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod 2009, 24:741-747.
11. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W, Hawkins MM: Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 2003, 40:62-64. (Pubitemid 36115128)
12. Cooper WN, Curley R, Macdonald F, Maher ER: Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics 2007, 89:613-617. (Pubitemid 46589945)
13. McRonald FE, Morris MR, Gentle D, Winchester L, Baban D, Ragoussis J, Clarke NW, Brown MD, Kishida T, Yao M, Latif F, Maher ER: CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma. Mol Cancer 2009, 8:31.
14. Horike S, Mitsuya K, Meguro M, Kotobuki N, Kashiwagi A, Notsu T, Schulz TC, Shirayoshi Y, Oshimura M: Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. Hum Mol Genet 2000, 9:2075-2083.
15. Bell AC, Felsenfeld G: Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene. Nature 2000, 405:482-485. (Pubitemid 30367427)
16. Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK: Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008, 40:949-951.
17. Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R: Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 2006, 38: 300-302.
18. Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER: Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann syndrome). PLoS Genet 2009, 5:e1000423.
19. Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y: In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet 2003, 72:1338-1341.
20. Manipalviratn SA, DeCherney A, Segars J: Imprinting disorders and assisted reproductive technology. Fertil Steril 2009, 91:305-315.
21. Owen CM, Segars JH Jr: Imprinting disorders and assisted reproductive technology. Semin Reprod Med 2009, 27:417-428.
22. Sutcliffe AG, Peters CJ, Bowdin S, Temple K, Reardon W, Wilson L, Clayton-Smith J, Brueton LA, Bannister W, Maher ER: Assisted reproductive therapies and imprinting disorders-a preliminary British survey. Hum Reprod 2006, 21:1009-1011.
23. Dias RP, Bogdarina I, Cazier JB, Buchanan C, Donaldson MC, Johnston LB, Hokken-Koelega AC, Clark AJ: Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted Loci in silver-russell syndrome. J Clin Endocrinol Metab 2012, 97:E2188-E2193.
24. Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I: Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009, 18:4724-4733.
25. Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D: Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat 2013, 34:595-602.
26. Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ, International Clinical Imprinting Consortium: Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A 2013, 161:2174-2182.
27. Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T: Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies. Hum Reprod 2012, 27:2541-2548.
28. Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JP, Ennis S, Mackay DJ, Temple IK: Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia 2013, 56:758-762.
29. Elliott M, Bayly R, Cole T, Temple IK, Maher ER: Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994, 46:168-174. (Pubitemid 24280202)
30. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE: The genetic aetiology of Silver-Russell syndrome. J Med Genet 2008, 45:193-199. (Pubitemid 351518723)
31. Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA: Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene mest. Nat Genet 1998, 20:163-169. (Pubitemid 28455449)
32. Foulstone E, Prince S, Zaccheo O, Burns JL, Harper J, Jacobs C, Church D, Hassan AB: Insulin-like growth factor ligands, receptors, and binding proteins in cancer. J Pathol 2005, 205:145-153. (Pubitemid 40227987)
33. Xu Y, Goodyer CG, Deal C, Polychronakos C: Functional polymorphism in the parental imprinting of the human IGF2R gene. Biochem Biophys Res Commun 1993, 197:747-754. (Pubitemid 24034633)
34. Young LE, Fernandes K, McEvoy TG, Butterwith SC, Gutierrez CG, Carolan C, Broadbent PJ, Robinson JJ, Wilmut I, Sinclair KD: Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nat Genet 2001, 27:153-154. (Pubitemid 32157439)
35. Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, Wakeling EL, Mathew V, Madden J, Davies JH, Temple IK: Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet 2010, 18:648-655.
36. Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B: Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 2003, 72:571-577. (Pubitemid 36255956)
37. Bens S, Haake A, Richter J, Leohold J, Kolarova J, Vater I, Riepe FG, Buiting K, Eggermann T, Gillessen-Kaesbach G, Platzer K, Prawitt D, Caliebe A, Siebert R: Frequency and characterization of DNA methylation defects in children born SGA. Eur J Hum Genet 2013, 21:838-843.
38. Amor DJ, Halliday J: A review of known imprinting syndromes and their association with assisted reproduction technologies. Hum Reprod 2008, 23:2826-2834.
39. Varrault A, Gueydan C, Delalbre A, Bellmann A, Houssami S, Aknin C, Severac D, Chotard L, Kahli M, Le Digarcher A, Pavlidis P, Journot L: Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell 2006, 11:711-722. (Pubitemid 44752557)
40. Zhao Z, Tavoosidana G, Sjölinder M, Göndör A, Mariano P, Wang S, Kanduri C, Lezcano M, Sandhu KS, Singh U, Pant V, Tiwari V, Kurukuti S, Ohlsson R: Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions. Nat Genet 2006, 38:1341-1347. (Pubitemid 44646299)