Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19

American Journal of Human Genetics

Volumn 72, Issue 1, 2003, Pages 156-160

  DeBaun, Michael R ^a   Niemitz, Emily L ^b   Feinberg, Andrew P ^b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL WALL DEFECT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BIRTH; CANCER INCIDENCE; CLINICAL ARTICLE; CONCEPTION; CONTROLLED STUDY; DISEASE ASSOCIATION; EAR MALFORMATION; FERTILIZATION IN VITRO; GENE; GENE H19; GENE LIT1; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HEMIHYPERTROPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGLYCEMIA; INTRACYTOPLASMIC SPERM INJECTION; MACROSOMIA; MEDICAL RECORD; METHYLATION; MOLECULAR GENETICS; MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUESTIONNAIRE; REGISTER;

ANIMALIA;

EID: 0037222510     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346031     Document Type: Article

References (22)

1. Cleary MA, van Raamsdonk CD, Levorse J, Zheng BH, Bradley A, Tilghman SM (2001) Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice. Nat Genet 29:78-82
2. 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 71:162-164
3. Cui H, Horon IL, Ohlsson R, Hamilton SR, Feinberg AP (1998) Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability. Nat Med 4:1276-1280
4. DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP (2002) Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 70:604-611
5. DeBaun MR, Tucker MA (1998) Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 132:398-400
6. Doherty AS, Mann MR, Tremblay KD, Bartolomei MS, Schultz RM (2000) Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biol Reprod 62:1526-1535
7. Hansen M, Kurinczuk JJ, Bower C, Webb S (2002) The risk of major birth defects after intracytoplasmic sperm injection and in vitro fertilization. N Engl J Med 346:725-730
8. Horike S, Mitsuya K, Meguro M, Kotobuki N, Kashiwagi A, Notsu T, Schulz TC, Shirayoshi Y, Oshimura M (2000) Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. Hum Mol Genet 9:2075-2083
9. Humpherys D, Eggan K, Akutsu H, Hochedlinger K, Rideout WM III, Biniszkiewicz D, Yanagimachi R, Jaenisch R (2001) Epigenetic instability in ES cells and cloned mice. Science 293:95-97
10. Khosla S, Dean W, Brown D, Reik W, Feil R (2001) Culture of preimplantation mouse embryos affects fetal development and the expression of imprinted genes. Biol Reprod 64:918-926
11. vLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc Natl Acad Sci USA 96:5203-5208
12. Moulton T, Crenshaw T, Hao Y, Moosikasuwan J, Lin N, Dembitzer F, Hensle T, Weiss L, McMorrow L, Loew T, Kraus W, Gerald W, Tycko B (1994) Epigenetic lesions at the H19 locus in Wilms' tumour patients. Nat Genet 7:440-447
13. Pettenati MJ, Haines JL, Higgins RR, Wappner RS, Palmer CG, Weaver DD (1986) Wiedemann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74:143-154
14. Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER (1995) Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 4:2379-2385
15. Schieve LA, Meikle SF, Ferre C, Peterson HB, Jeng G, Wilcox LS (2002) Low and very low birth weight in infants conceived with use of assisted reproductive technology. N Engl J Med 346:731-737
16. Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, Higgins MJ (1999) A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci USA 96:8064-8069
17. Steenman MJ, Rainier S, Dobry CJ, Grundy P, Horon IL, Feinberg AP (1994) Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nat Genet 7:433-439
18. Sutcliffe AG, D'Souza SW, Cadman J, Richards B, McKinlay IA, Lieberman B (1995) Minor congenital anomalies, major congenital malformations and development in children conceived from cryopreserved embryos. Hum Reprod 10:3332-3337
19. Ventura SJ, Martin JA, Curtin SC, Menacker F, Hamilton BE (2001) Births: Final data for 1999. Natl Vital Stat Rep 49:1-100
20. Weksberg R, Shen DR, Fei YL, Song QL, Squire J (1993) Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 5:143-150
21. Young LE, Fernandes K, McEvoy TG, Butterwith SC, Gutierrez CG, Carolan C, Broadbent PJ, Robinson JJ, Wilmut I, Sinclair KD (2001) Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nat Genet 27:153-154
22. Young LE, Sinclair KD, Wilmut I (1998) Large offspring syndrome in cattle and sheep. Rev Reprod 3:155-163