Clinical Utility Gene Card For: Beckwith-Wiedemann Syndrome

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2013 Jul 4

PMID 23820480

Citations 29

Authors

Thomas Eggermann

Elizabeth Algar

Pablo Lapunzina

Deborah Mackay

Eamonn R Maher

Marcel Mannens

Irene Netchine

Dirk Prawitt

Andrea Riccio

I Karen Temple

Rosanna Weksberg

Affiliations

Soon will be listed here.

Citing Articles

Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.

Romeo D, George A, Sussman J, Banala M, Wiemken A, Wu M Orphanet J Rare Dis. 2024; 19(1):384.

PMID: 39420401 PMC: 11483972. DOI: 10.1186/s13023-024-03350-3.

DNA methylation in human diseases.

Younesian S, Mohammadi M, Younesian O, Momeny M, Ghaffari S, Bashash D Heliyon. 2024; 10(11):e32366.

PMID: 38933971 PMC: 11200359. DOI: 10.1016/j.heliyon.2024.e32366.

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.

Wu D, Yang J, Liu C, Hsieh T, Marchi E, Blair J ArXiv. 2024; .

PMID: 38711434 PMC: 11071539.

Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.

Larsen A, Brusgaard K, Christesen H, Detlefsen S Histol Histopathol. 2024; 39(7):817-844.

PMID: 38305063 DOI: 10.14670/HH-18-709.

Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies.

Quarello P, Carli D, Biasoni D, Gerocarni Nappo S, Morosi C, Cotti R Cancers (Basel). 2023; 15(4).

PMID: 36831633 PMC: 9954715. DOI: 10.3390/cancers15041292.

References

Gicquel C, Gaston V, Mandelbaum J, Siffroi J, Flahault A, Le Bouc Y . In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet. 2003; 72(5):1338-41. PMC: 1180288. DOI: 10.1086/374824. View

Teplick A, Kowalski M, Biegel J, Nichols K . Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr. 2011; 170(3):285-94. PMC: 3086787. DOI: 10.1007/s00431-010-1377-2. View

Wilson M, Peters G, Bennetts B, McGillivray G, Wu Z, Poon C . The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports. Am J Med Genet A. 2007; 146A(2):137-48. DOI: 10.1002/ajmg.a.32172. View

Alders M, Bliek J, vd Lip K, vd Bogaard R, Mannens M . Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur J Hum Genet. 2008; 17(4):467-73. PMC: 2986208. DOI: 10.1038/ejhg.2008.197. View

Gogiel M, Begemann M, Spengler S, Soellner L, Goretzlehner U, Eggermann T . Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour. Eur J Hum Genet. 2012; 21(7):788-91. PMC: 3722953. DOI: 10.1038/ejhg.2012.259. View

Meyer E, Lim D, Pasha S, Tee L, Rahman F, Yates J . Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet. 2009; 5(3):e1000423. PMC: 2650258. DOI: 10.1371/journal.pgen.1000423. View

Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A . A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. J Med Genet. 2009; 47(6):429-32. DOI: 10.1136/jmg.2009.071142. View

Cooper W, Luharia A, Evans G, Raza H, Haire A, Grundy R . Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2005; 13(9):1025-32. DOI: 10.1038/sj.ejhg.5201463. View

Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M . The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites. Hum Mol Genet. 2012; 22(3):544-57. PMC: 3542864. DOI: 10.1093/hmg/dds465. View

10.

Bliek J, Verde G, Callaway J, Maas S, De Crescenzo A, Sparago A . Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2008; 17(5):611-9. PMC: 2986258. DOI: 10.1038/ejhg.2008.233. View

11.

Algar E, Brickell S, Deeble G, Amor D, Smith P . Analysis of CDKN1C in Beckwith Wiedemann syndrome. Hum Mutat. 2000; 15(6):497-508. DOI: 10.1002/1098-1004(200006)15:6<497::AID-HUMU2>3.0.CO;2-F. View

12.

Bliek J, Gicquel C, Maas S, Gaston V, Le Bouc Y, Mannens M . Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr. 2004; 145(6):796-9. DOI: 10.1016/j.jpeds.2004.08.007. View

13.

Lim D, Bowdin S, Tee L, Kirby G, Blair E, Fryer A . Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod. 2008; 24(3):741-7. DOI: 10.1093/humrep/den406. View

14.

Lam W, Hatada I, Ohishi S, Mukai T, Joyce J, Cole T . 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):518-23. PMC: 1734395. View

15.

Romanelli V, Belinchon A, Benito-Sanz S, Martinez-Glez V, Gracia-Bouthelier R, Heath K . CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 2010; 152A(6):1390-7. DOI: 10.1002/ajmg.a.33453. View

16.

Romanelli V, Belinchon A, Campos-Barros A, Heath K, Garcia-Minaur S, Martinez-Glez V . CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. Placenta. 2009; 30(6):551-4. DOI: 10.1016/j.placenta.2009.03.013. View

17.

Scott R, Walker L, Olsen O, Levitt G, Kenney I, Maher E . Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. Arch Dis Child. 2006; 91(12):995-9. PMC: 2083016. DOI: 10.1136/adc.2006.101295. View

18.

Bliek J, Maas S, Ruijter J, Hennekam R, Alders M, Westerveld A . 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):467-76. DOI: 10.1093/hmg/10.5.467. View

19.

Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F . Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet. 2009; 18(24):4724-33. DOI: 10.1093/hmg/ddp435. View

20.

Weksberg R, Shuman C, Beckwith J . Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2009; 18(1):8-14. PMC: 2987155. DOI: 10.1038/ejhg.2009.106. View