A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Journal of Medical Genetics

Volumn 47, Issue 6, 2010, Pages 429-432

  Zollino, Marcella ^a   Orteschi, Daniela ^a   Marangi, Giuseppe ^a   De Crescenzo, Agostina ^b   Pecile, Vanna ^c   Riccio, Andrea ^b,d   Neri, Giovanni ^a  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ANALYSIS; GENOME IMPRINTING; HUMAN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; BECKWITH-WIEDEMANN SYNDROME; CENTROMERE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENOMIC IMPRINTING; HUMANS;

EID: 77953688482     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.071142     Document Type: Article

References (17)

1. Tycko B, Morison IM. Physiological functions of imprinted genes. J Cell Physiol 2002;192:245-58.
2. Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001;2:21-32.
3. Feinberg AP. The two-domain hypothesis in Beckwith-Wiedemann syndrome. J Clin Invest 2000;106:739-40.
4. Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2005;137C:12-23
5. Maher ER, Reik W. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000;105:247-52.
6. Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 2003;12:R61-8.
7. 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 U S A 1999;96: 5203-8.
8. Diaz-Meyer N, Day CD, Khatod K, Maher ER, Cooper W, Reik W, Junien C, Graham G, Algar E, Der Kaloustian VM, Higgins MJ. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet 2003;40:797-801.
9. 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;36:518-23.
10. Joyce JM, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN. Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum Mol Genet 1997;6:1543-8.
11. Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet 2004;75:844-9.
12. 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 U S A 1999;96:8064-9.
13. Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith- Wiedemann syndrome. Eur J Hum Genet 2009;17:611-19.
14. Morison IM, Ramsay JP, Spencer HG. A census of mammalian imprinting. Trends Genet 2005;21:457-65.
15. Ainscough JF, Koide T, Tada M, Barton S, Surani MA. Imprinting of Igf2 and H19 from a 130 kb YAC transgene. Development 1997;124:3621-32. (Pubitemid 27470045)
16. Cerrato F, Sparago A, Di Matteo I, Zou X, Dean W, Sasaki H, Smith P, Genesio R, Bruggemann M, Reik W, Riccio A. The two-domain hypothesis in Beckwith- Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster. Hum Mol Genet 2005;14:503-11.
17. Schonherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. The centromeric 11p15 imprinting centre is also involved in Silver-Russel syndrome. J Med Genet 2007;44:59-63.