Two Infants with Beckwith-Wiedemann Syndrome

Wiedemann HR. Familial malformation complex with umbilical hernia and macroglossia - a "new syndrome"? (French). J Genet Hum 1964; 13: 223-232.Search in Google Scholar

Pettenati MJ, Haines JL, Higgins RR, Wappner RS, Palmer CG, Weaver DD. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986; 74(2): 143-154.10.1007/BF00282078Search in Google Scholar

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(2): 168-174.10.1111/j.1399-0004.1994.tb04219.xSearch in Google Scholar

DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. J Pediatr 1998; 132(3, Pt. 1): 398-400.10.1016/S0022-3476(98)70008-3Search in Google Scholar

Thorburn MJ, Wright ES, Miller CG, Smith-Read EH. Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. Am J Dis Child 1970; 119(4): 316-321.10.1001/archpedi.1970.02100050318006Search in Google Scholar

Maher ER, Reik W. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000; 105(3): 247-252.10.1172/JCI9340Search in Google Scholar

Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001; 2(1): 21-32.10.1038/35047554Search in Google Scholar

Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW. Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 1980; 96(1): 47-50.10.1016/S0022-3476(80)80322-2Search in Google Scholar

Cohen MM Jr. Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005; 8(3): 287-304.10.1007/s10024-005-1154-916010495Search in Google Scholar

DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002; 70(3): 604-611.10.1086/33893438494011813134Search in Google Scholar

Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER. Epi-genotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000; 37(12): 921-926.10.1136/jmg.37.12.921173449411106355Search in Google Scholar

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet 2001; 10(5): 467-476.10.1093/hmg/10.5.46711181570Search in Google Scholar

Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2001; 9(6): 409-418.10.1038/sj.ejhg.520064911436121Search in Google Scholar

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet 2001; 10(26): 2989-3000.10.1093/hmg/10.26.298911751681Search in Google Scholar

Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet 1999; 36(7): 518-523.10.1136/jmg.36.7.518Search in Google Scholar

Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc Natl Acad Sci USA 1999; 96(9): 5203-5208.10.1073/pnas.96.9.52032184210220444Search in Google Scholar

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. 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 1999; 96(14): 8064-8069.10.1073/pnas.96.14.80642218810393948Search in Google Scholar

Cleary MA, van Raamsdonk CD, Levorse J, Zheng B, Bradley A, Tilghman SM. Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice. Nat Genet 2001; 29(1): 78-82.10.1038/ng71511528397Search in Google Scholar

Fitzpatrick GV, Soloway PD, Higgins MJ. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nat Genet 2002; 32(3): 426-31.10.1038/ng98812410230Search in Google Scholar

Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 2004; 36(9): 958-960.10.1038/ng141015314640Search in Google Scholar

Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP. Micro-deletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet 2004; 75(5): 844-849.10.1086/425343118211315372379Search in Google Scholar