Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

American Journal of Medical Genetics

Volumn 79, Issue 5, 1998, Pages 347-353

  Dutly, Fabrizio ^a   Baumer, Alessandra ^a   Kayserili, Hülya ^b   Yüksel Apak, Memnune ^b   Zerova, Tatjana ^c   Hebisch, Gundula ^d   Schinzel, Albert ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b ISTANBUL UNIVERSITY   (Turkey)

^c SHUPYK NATIONAL MEDICAL ACADEMY OF POSTGRADUATE EDUCATION   (Ukraine)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

Imprinting; Paternal uniparental disomy; Somatic mosaicism; Wiedemann Beckwith syndrome

Indexed keywords

ARTICLE; AUTOSOME MOSAICISM; BECKWITH WIEDEMANN SYNDROME; CHILD; CHROMOSOME 11P; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CLINICAL FEATURE; DNA DETERMINATION; DNA METHYLATION; FEMALE; GENETIC RECOMBINATION; GENOME IMPRINTING; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; UNIPARENTAL DISOMY; CHROMOSOME 11; GENETIC MARKER; GENETICS; INFANT; MOSAICISM; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; PROMOTER REGION; SOUTHERN BLOTTING; TUMOR SUPPRESSOR GENE;

DNA; MUSCLE PROTEIN; RNA H19; UNTRANSLATED RNA;

BECKWITH-WIEDEMANN SYNDROME; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; DNA; FEMALE; GENES, TUMOR SUPPRESSOR; GENETIC MARKERS; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; MOSAICISM; MUSCLE PROTEINS; PEDIGREE; PROMOTER REGIONS (GENETICS); RNA, UNTRANSLATED;

EID: 0032511642     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981012)79:5<347::AID-AJMG4>3.0.CO;2-G     Document Type: Article

References (47)

1. Antonarakis SE, Blouin J-L, Maher J, Avramopoulos D, Thomas G, Talbot CC Jr (1993): Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. Am J Hum Genet 52:1145-1152.
2. Beckwith JB (1969): Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. BD: OAS V(2):188-196.
3. Bischoff FZ, Feldman GL, McCaskill C, Subramanian S, Hughes MR, Shaffer LG (1995): Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome. Hum Mol Genet 43:395-399.
4. Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER (1997): Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet 35:353-359.
5. Chao L-Y, Huff V, Tomlinson G, Riccardi VM, Strong LC, Saunders GF (1993): Genetic mosaicism in normal tissues of Wilms' tumor patients. Nat Genet 3:127-131.
6. Christofori G, Naik P, Hanahan D (1995): Deregulation of both imprinted and expressed alleles of the insulin-like growth factor 2 gene during β-cell tumorigenesis. Nat Genet 10:196-201.
7. Elliott M, Bayly R, Cole T, Temple IK, Maher ER (1994): Clinical features and natural history of Beckwith-Wiedemann syndrome: Presentation of 74 new cases. Clin Genet 46:168-174.
8. Engström W, Lindham S, Schofield P (1988): Wiedemann-Beckwith syndrome. Eur J Pediatr 147:450-457.
9. Ferguson-Smith AC, Cattanach BM, Barton SC, Beechey CV, Surani MA (1991): Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351:667-670.
10. Giddins SJ, King CD, Harman KW, Flood JF, Carnaghi LR (1994): Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting. Nat Genet 6:310-313.
11. Grundy P, Telzerow P, Paterson MC, Haber D, Berman B, Li F, Garber J (1991): Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms. Lancet 338:1079-1080.
12. Guillemont F, Caspary T, Tilghman SM, Copeland NG, Gilbert DJ, Jekins NA, Anderson DJ, Joyner AL, Rossant J, Nagy A (1995): Genomic imprinting of Mash2, a mouse gene required for trophoblast development. Nat Genet 9:235-242.
13. Hao Y, Crenshaw T, Moulton T, Newcomb E, Tycko B (1993): Tumor-suppressor activity of H19 RNA. Nature 365:764-767.
14. Harrington EA, Bennet ME, Fanidi A, Evan GI (1994): c-Myc-induced apoptosis in fibroblasts in inhibited by specific cytokines. EMBO J 13: 3286-3295.
15. Hatada I, Mukai T (1995): Genomic imprinting of p57KIP2, a cyclin-dependent kinase inhibitor, in mouse. Nat Genet 11:204-206.
16. KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 14:171-173.
17. Henry I, Jeanpierre M, Couillin P, Barichard F, Serre J-L, Journel H, Lamouroux A, Turleau C, de Grouchy J, Junien C (1989): Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. Hum Genet 81:273-277.
18. Henry I, Bonaïti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C (1991): Uniparental disomy in a genetic cancer-predisposing syndrome. Nature 351:665-667.
19. Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade MF, Landrieu P, Junien C (1993): Somatic mosaicism for partial paternal isodisomy in Beckwith-Wiedemann syndrome: A post-fertilization event. Eur J Hum Genet 1:19-29.
20. Hoovers JM, Kalikin LM, Johnson LA, Alders M, Redeker B, Law DJ, Bliek J, Steenman M, Benedict M, Wiegant J, Lengauer C, Taillon-Miller P, Schleissinger D, Edwards MC, Elledge SJ, Ivens A, Westerveld A, Little P, Mannes M, Feinberg A (1995): Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci USA 92:12456-12460.
21. Journel H, Lucas J, Allaire C, Le Mee F, Defawe G, Lecornu M, Jouan H, Roussey M, Le Marec B (1985): Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases. Ann Genet 28:97-101.
22. Junien C (1992): Beckwith-Wiedemann syndrome, tumorigenesis and imprinting. Curr Opin Genet Dev 2:431-438.
23. Kalousek DK, Langlois S, Barret I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, Giogiutti E (1993): Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52:8-16.
24. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BCJ, Otten BJ, Hergersberg M, Werder E, Schoenle E, Schinzel A (1995): Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587.
25. Koufos A, Grundy P, Morgan K, Aleck KA, Hadro T, Lampkin BC, Kalbakji A, Cavenee WK (1989): Familial Beckwith-Wiedemann syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet 44:711-719.
26. Mannens M, Hoovers JMN, Redeker E, Verjaal M, Feinberg AP, Little P, Boavida M, Coad N, Steenman M, Bliek J, Niikawa N, Tonoki H, Nakamura Y, de Boer EG, Slater RM, John R, Cowell JK, Junien C, Henry I, Tommerrup N, Weksberg R, Pueschel SM, Leshot NJ, Westerveld A (1994): Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet 2:3-23.
27. Matsuoka S, Thompson JS, Edwards MC, Barletta JM, Grundy P, Kalikin LM, Harper JW, Elledge SJ, Feinberg AP (1996): Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, pp57KIP2, on chromosome 11p15. Proc Natl Acad Sci USA 93:3026-3030.
28. Norman AM, Read AP, Clayton-Smith J, Andrews T, Donnai D (1992): Recurrent Beckwith-Wiedemann syndrome with inversion of chromosome (11)(p11.2p15.5). Am J Med Genet 42:638-641.
29. Ogawa O, Becroft DM, Morison IM, Eccles MR, Skeen JE, Mauger DC, Reever AE (1993): Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumor and gigantism. Nat Genet 5:408-412.
30. Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP (1989): Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. Am J Hum Genet 44:720-723.
31. Purvis-Smith SG, Saville T, Manass S, Yip MY, Lam-Po-Tang PRL, Duffy B, Johnston H, Leigh D, McDonald B (1992): Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15. Am J Hum Genet 50:1348-1350.
32. Rainier S, Johnson LA, Dobry CJ, Ping AJ, Grundy PE, Feinberg AP (1993): Relaxation of imprinted genes in human cancer. Nature 362: 747-749.
33. Redeker E, Alders A, Hoovers JMN, Richard CW III, Westerweld A, Mannens M (1995): Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. Cytogenet Cell Genet 68:222-225.
34. Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER (1994): Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. Hum Mol Genet 8:1297-1301.
35. Robinson WP, Bernasconi F, Mutiranga A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA (1993): Nondisjunction of chromosome 15: Origin and recombination. Am J Hum Genet 53:740-751.
36. Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER (1994): Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 31:749-753.
37. Slavotinek A, Gaunt L, Donnai D (1997): Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet 34:816-826.
38. Steenman MJC, 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' tumor. Nat Genet 7:433-439.
39. Sun F-L, Dean WL, Kelsey G, Allen ND, Reik W (1997): Transactivation of IGF2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 398:809-915.
40. Tommerup N, Brandt CA, Pedersen S, Bolund L, Kamper J (1993): Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). J Med Genet 30: 958-961.
41. Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charles R (1984): Trisomy 11p15 and Beckwith-Wiedemann syndrome: A report of two cases. Hum Genet 67:219-221.
42. Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J (1995): A case of paternal uniparental disomy for chromosome 11. Prenat Diagn 15:773-777.
43. 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.
44. Weng EY, Moeschler JB, Graham JM Jr (1995): Longitudinal observations on 15 children with Beckwith-Wiedemann syndrome. Am J Med Genet 56:366-373.
45. Wiedemann HR (1964): Complexe malformatif familial avec hernie ombilicale et macroglossie - un 'syndrome nouveau'? J Génét Hum 13:232-233.
46. Wiedemann HR (1983): Tumors and hemihypertrophy associated with Beckwith-Wiedemann syndrome. Eur J Pediatr 141:129.
47. KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature 387:151-158.