Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

Epigenetics

Volumn 10, Issue 7, 2015, Pages 643-649

  Paganini, Leda ^a   Carlessi, Nicole ^a   Fontana, Laura ^a   Silipigni, Rosamaria ^b   Motta, Silvia ^b   Fiori, Stefano ^a   Guerneri, Silvana ^b   Lalatta, Faustina ^b   Cereda, Anna ^c   Sirchia, Silvia ^a   Miozzo, Monica ^a   Tabano, Silvia ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c Azienda Ospedaliera Papa Giovanni XXIII   (Italy)

Author keywords

Beckwith Wiedemann syndrome; Chorionic villi; DNA methylation; Imprinting; Prenatal diagnosis

Indexed keywords

ANEUPLOIDY; ARTICLE; AUTOPSY; BECKWITH WIEDEMANN SYNDROME; CHORION VILLUS; COMPARATIVE STUDY; CYTOGENETICS; DNA METHYLATION ASSAY; DYSPLASIA; FEMALE; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTESTINE; KIDNEY; MOLECULAR DIAGNOSIS; NORMAL HUMAN; OMPHALOCELE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PYROSEQUENCING; VALIDATION PROCESS; BECKWITH-WIEDEMANN SYNDROME; CELL CULTURE; DNA METHYLATION; GENETICS; GENOME IMPRINTING; METABOLISM; PREGNANCY; PROMOTER REGION;

BECKWITH-WIEDEMANN SYNDROME; CELLS, CULTURED; CHORIONIC VILLI; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; PROMOTER REGIONS, GENETIC;

EID: 84943766340     PISSN: 15592294     EISSN: 15592308     Source Type: Journal    
DOI: 10.1080/15592294.2015.1057383     Document Type: Article

References (25)

1. Peters J. The role of genomic imprinting in biology and disease: an expanding view. Nat Rev Genet 2014; 15: 517-30; PMID: 24958438; http://dx. doi. org/10. 1038/nrg3766.
2. Deaton AM, Bird A. CpG islands and the regulation of transcription. Genes Dev 2011; 25: 1010-22; PMID: 21576262; http://dx. doi. org/10. 1101/gad. 2037511.
3. Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 2003; 12(Spec No 1): R61-8; PMID: 12668598; http://dx. doi. org/10. 1093/hmg/ddg067.
4. Milani D, Pezzani L, Tabano S, Miozzo M. Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. Appl Clin Genet 2014; 7: 169-75; PMID: 25258553.
5. Saal HM. Russell-Silver Syndrome. In: GeneReviews. Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. Seattle (WA): University of Washington, Seattle; 2002: 1993-2015. Nov 2 [Updated 2011 Jun 2].
6. Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP. Multilocus methylation defects in imprinting disorders. Biomol Concepts 2015; 6: 47-57; PMID: 25581766; http://dx. doi. org/10. 1515/bmc-2014-0037.
7. Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, et al. Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. Genet Med 2014; 16: 903-12; PMID: 24810686; http://dx. doi. org/10. 1038/gim. 2014. 46.
8. Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, et al. 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: 4724-33; PMID: 19755383; http://dx. doi. org/10. 1093/hmg/ddp435.
9. Williams DH, Gauthier DW, Maizels M. Prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn 2005; 25: 879-84; PMID: 16193463; http://dx. doi. org/10. 1002/pd. 1155.
10. Brioude F, Lacoste A, Netchine I, VazquezMP, Auber F, Audry G, Gauthier-VillarsM, Brugieres L, Gicquel C, Le Bouc Y, et al. Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Horm Res Paediatr 2013; 80: 457-65; PMID: 24335096; http://dx. doi. org/10. 1159/000355544.
11. Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, et al. Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Epigenetics 2013; 8: 1053-60; PMID: 23917791; http://dx. doi. org/10. 4161/epi. 25812.
12. Palumbo O, Mattina T, Palumbo P, Carella M, Perrotta CS. A de novo 11p13 microduplication in a patient with some features invoking Silver-Russell Syndrome. Mol Syndromol 2014; 5: 11-8; PMID: 24550760.
13. Tee L, Lim DH, Dias RP, Baudement MO, Slater AA, Kirby G, Hancocks T, Stewart H, Hardy C, Macdonald F, et al. Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. Clin Epigenetics 2013; 5: 23; PMID: 24325814; http://dx. doi. org/10. 1186/1868-7083-5-23.
14. Chiba H, Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Arima T. DNA methylation errors in imprinting disorders and assisted reproductive technology. Pediatr Int 2013; 55: 542-9; PMID: 23919517; http://dx. doi. org/10. 1111/ped. 12185.
15. Hiura H, Okae H, Chiba H, Miyauchi N, Sato F, Sato A, Arima T. Imprinting methylation errors in ART. Reprod Med Biol 2014; 13: 193-202; PMID: 25298744; http://dx. doi. org/10. 1007/s12522-014-0183-3.
16. Tabano S, Colapietro P, Cetin I, Grati FR, Zanutto S, Mandó C, Antonazzo P, Pileri P, Rossella F, Larizza L, et al. Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extraembryonic compartments and its possible role in fetal growth restriction. Epigenetics 2010; 5: 313-24; PMID: 20418667; http://dx. doi. org/10. 4161/epi. 5. 4. 11637.
17. Oladapo OT. Amniocentesis and chorionic villus sampling for prenatal diagnosis: RHL commentary (last revised: 15 December 2006). The WHO Reproductive Health Library; Geneva: World Health Organization.
18. Koukoura O, Sifakis S, Spandidos DA. DNA methylation in the human placenta and fetal growth. Mol Med Rep 2012; 5: 883-9; PMID: 22294146.
19. Bocangel D, Sengupta S, Mitra S, Bhakat KK. p53-mediated Down-regulation of the Human DNA Repair Gene O6-Methylguanine-DNA Methyltransferase (MGMT) via Interaction with Sp1 Transcription Factor. Anticancer Res 2009; 29: 3741; PMID: 19846904.
20. Chiu RW, Chim SS, Wong IH, Wong CS, LeeWS, To KF, Tong JH, Yuen RK, Shum AS, Chan JK, et al. Hypermethylation of RASSF1A in human and rhesus placentas. Am J Pathol 2007; 170: 941-50; PMID: 17322379; http://dx. doi. org/10. 2353/ajpath. 2007. 060641.
21. Eroglu A, Layman LC. Role of ART in imprinting disorders. Semin Reprod Med 2012; 30: 92-104; PMID: 22549709; http://dx. doi. org/10. 1055/s-0032-1307417.
22. Nayeri UA, West AB, Grossetta Nardini HK, Copel JA, Sfakianaki AK. Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome. Ultrasound Obstet Gynecol 2013; 41: 366-74; PMID: 23239538; http://dx. doi. org/10. 1002/uog. 12359.
23. Shiefa S, Amargandhi M, Bhupendra J, Moulali S, Kristine T. First trimester maternal serum screening using biochemical markers PAPP-A and free b-hCG for down syndrome, patau syndrome and edward syndrome. Indian J Clin Biochem 2013; 28: 3-12; PMID: 24381414; http://dx. doi. org/10. 1007/s12291-012-0269-9.
24. Simoni G, Gimelli G, Cuoco C, Romitti L, Terzoli G, Guerneri S, Rossella F, Pescetto L, Pezzolo A, Porta S, et al. First trimester fetal karyotyping: one thousand diagnoses. Hum Genet 1986; 72: 203-9; PMID: 3957345.
25. White HE, Hall VJ, Cross NC. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Clin Chem 2007; 53: 1960-2; PMID: 17890436; http://dx. doi. org/10. 1373/clinchem. 2007. 093351.