Methylation pattern at the KvDMR in a child with Beckwith-Wiedemann syndrome conceived by ICSI

American Journal of Medical Genetics, Part A

Volumn 143, Issue 6, 2007, Pages 625-629

  Gomes, M V ^a   Gomes, C C ^b   Pinto Jr , W ^c   Ramos, E S ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Department of Gynecology and Obstetrics   (Brazil)

^c CEMESP   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME ANALYSIS; CPG ISLAND; DEVELOPMENTAL GENETICS; DNA METHYLATION; DNA SEQUENCE; EMBRYO; EMBRYO DEVELOPMENT; GENETIC ASSOCIATION; GENETIC EPIGENESIS; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; INTRACYTOPLASMIC SPERM INJECTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; UNIPARENTAL DISOMY;

ADULT; BECKWITH-WIEDEMANN SYNDROME; CPG ISLANDS; DEOXYRIBONUCLEASE HPAII; DNA; DNA METHYLATION; FEMALE; FETAL DISEASES; HUMANS; INFANT, NEWBORN; KCNQ1 POTASSIUM CHANNEL; MALE; PREGNANCY; SPERM INJECTIONS, INTRACYTOPLASMIC; ULTRASONOGRAPHY, PRENATAL; UNIPARENTAL DISOMY;

EID: 33847358635     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31628     Document Type: Article

References (24)

1. Borghol N, Lornage J, Blachere T, Sophie Garret A, Lefevre A. 2006. Epigenetic Status of the H19 locus in human oocytes following in vitro maturation. Genomics 87:417-426.
2. Chang AS, Moley KH, Wangler M, Feinberg AP, DeBaun MR. 2005. Association between Bekwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients. Pert Steril 80:349-354.
3. Chiurazzi P, Bajer J, Tabolacci E, Pomponi MG, Lecce R, Zollino M. Neri G. 2004. Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister-Killian syndrome. Am J Med Genet Part A 130A:315-316.
4. Clark SJ, Harrison J, Paul CL, Frommer M. 1994. High sensitivity mapping of methylated cytosines. Nucleic Acid Res 22:2990-2997.
5. Constancia M, Hemberger M, Hughes J, Dean W, Ferguson-Smith A, Fundele R, Stewart F, Kelsey G, Fowden A, Sibley C, Reik W. 2002. Placental specific IGF-II is a major modulator of placental and fetal growth. Nature 417:945-948.
6. Cox GF, Burger J, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B. 2002. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 71:102-164.
7. DeBaun MR, Niemitz EL, Feinberg AP. 2003. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 72:156-160.
8. Fuke C, Shimabukuro M, Petronis A, Sugimoto J, Oda T, Miura K, Miyazaki T, Ogura C, Okazaki Y, Jinno Y. 2004. Age related changes in 5-methylcytosine content in human peripheral leukocytes and placentas: An HPLC-based study. Ann Hum Genet 8:196-204.
9. Fulka H, Mrazek M, Tepla O, Fulka J Jr. 2004. DNA methylation pattern in human zygotes and developing embryos. Reproduction 128:703-708.
10. Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y. 2003. In Vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet 72:1338-1341.
11. Halliday J, Oke K, Breheny S, Algar E, Amor DJ. 2004. Beckwith-Wiedemann syndrome and IVF: A case-control study. Am J Hum Genet 75:526-528.
12. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. 1996. Methylation-specific PCR: A novel PCR assay for methylation status of CpG island. Proc Natl Acad Sci USA 93:9821-9826.
13. LC, Dahiya R. 2002. Methprimer: Designing primers for methylation PCRs. Bioinformatics 18:1427-1431.
14. Lucifero D, Chaillet JR, Trasler J. 2004. Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology. Hum Reprod Update 10:3-18.
15. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W, Hawkins MM. 2003. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 40:62-64.
16. Mann MR, Lee SS, Doherty AS, Verona RI, Nolen LD, Schultz RM, Bartolomei MS. 2004. Selective loss of imprinting in the placenta following preimplantation development in culture. Development 131:3727-3735.
17. Orstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O, Buiting K. 2002. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J Hum Genet 72:218-219.
18. Reik W, Constancia M, Fowden A, Anderson N, Dean W, Ferguson-Smith A, Tycko B, Sibley C. 2003. Regulation of supply and demand for maternal nutrients in mammals by imprinted genes. J Physiol 547:35-44.
19. Shi W, Haaf T. 2002. Aberrant methylation pattern at the two cell stage as an indicator of early developmental failure. Mol Reprod Dev 63:329-334.
20. Surani MA, Barton SC. 1983. Development of gynogenetic eggs in the mouse: Implications for parthenogenetic embryos. Science 222:1034-1036.
21. Tadokoro K, Fujii H, Inoue T, Yamada M. 1991. Polymerase chain reaction (PCR) for detection of ApaI polymorphism at the insulin like growth factor II gene (IGF2). Nucleic Acids Res 19:6967.
22. Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. 2002. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 11:1317-1325.
23. Weksberg R, Shuman C, Smith AC. 2005. Beckwith-Wiedemann syndrome. Am J Med Genet Part C Semin Med Genet 137C:12-23.
24. Zhang Y, Tycko B. 1992. Monoallelic expression of the human H19 gene. Nat Genet 1:40-44.