Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

Human Molecular Genetics

Volumn 10, Issue 26, 2001, Pages 2989-3000

  Weksberg, Rosanna ^a,b,c   Nishikawa, Joy ^b   Caluseriu, Oana ^a   Fei, Yan Ling ^a   Shuman, Cheryl ^a,b   Wei, Cuihong ^c   Steele, Leslie ^b,c   Cameron, Jessie ^a   Smith, Adam ^a,b   Ambus, Ingrid ^a   Li, Madeline ^a   Ray, Peter N ^a,b,c   Sadowski, Paul ^b   Squire, Jeremy ^b,d  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d PRINCESS MARGARET HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P57; SOMATOMEDIN B; TRANSCRIPTION FACTOR; UNTRANSLATED RNA;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CENTROMERE; CHROMOSOME 11P; CONGENITAL MALFORMATION; CONTROLLED STUDY; DNA METHYLATION; GENE MUTATION; GENETIC DISORDER; GENOME IMPRINTING; GROWTH DISORDER; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NEPHROBLASTOMA; PRIORITY JOURNAL; TELOMERE; UNIPARENTAL DISOMY;

EID: 18244369516     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.26.2989     Document Type: Article

References (43)

1. Wiedemann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature
2. Molecular genetics of Wiedemann-Beckwith syndrome
3. Beckwith-Wiedemann syndrome: Imprinting in clusters revisited
4. Genomic imprinting. Silence across the border
5. Tumors and hemihypertrophy associated with the Wiedemann-Beckwith syndrome
6. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry
7. Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potential
8. The Beckwith-Wiedemann syndrome phenotype and the risk of cancer
9. 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
10. Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting
11. The product of the H19 gene may function as an RNA
12. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
13. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
14. The 5′ flank of mouse H19 in an unusual chromatin conformation unidirectionally blocks enhancer-promoter communication
15. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
16. LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
17. Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome
18. Uniparental paternal disomy in a genetic cancer-predisposing syndrome
19. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: A post-fertilization event
20. KIP2 is mutated in Beckwith-Wiedemann syndrome
21. KIP2) mutations in familial and sporadic Beckwith-Wiedermann syndrome (BWS) provides a novel genotype-phenotype correlation
22. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
23. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain
24. Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith-Wiedemann syndrome
25. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
26. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
27. Epigenetic gene silencing in cancer
28. KIP2 mutation in Beckwith-Wiedemann syndrome
29. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome
30. Genomic imprinting and human neoplasia
31. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations
32. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome
33. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome
34. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome
35. Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome
36. Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11
37. Two distinct tumor suppressor loci within chromosome 11p15 implicated in breast cancer progression and metastasis
38. Genomic imprinting and cancer; new paradigms in the genetics of neoplasia
39. Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: Inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting
40. Genetics of Beckwith-Wiedemann syndrome-associated tumors: Common genetic pathways
41. KIP2 mutations in Beckwith-Wiedemann syndrome
42. KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors
43. KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?