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Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

MedGen UID:
1842606
•Concept ID:
C5680922
•
Disease or Syndrome
Synonym: Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15
 
Monarch Initiative: MONDO:0016475
Orphanet: ORPHA231117

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeckwith-Wiedemann syndrome due to imprinting defect of 11p15

Professional guidelines

PubMed

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P
Eur J Hum Genet 2016 Jun;24(6):784-93. Epub 2015 Oct 28 doi: 10.1038/ejhg.2015.224. PMID: 26508573Free PMC Article
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB
Eur J Hum Genet 2016 Feb;24(2):183-90. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.88. PMID: 25898929Free PMC Article

Recent clinical studies

Etiology

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Imprinted disorders and growth.
Giabicani É, Brioude F, Le Bouc Y, Netchine I
Ann Endocrinol (Paris) 2017 Jun;78(2):112-113. Epub 2017 May 4 doi: 10.1016/j.ando.2017.04.010. PMID: 28478949
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
Demars J, Gicquel C
Clin Genet 2012 Apr;81(4):350-61. Epub 2012 Jan 16 doi: 10.1111/j.1399-0004.2011.01822.x. PMID: 22150955
Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives.
Cohen MM Jr
Pediatr Dev Pathol 2005 May-Jun;8(3):287-304. Epub 2005 Jul 14 doi: 10.1007/s10024-005-1154-9. PMID: 16010495

Diagnosis

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M
Int J Mol Sci 2021 Mar 26;22(7) doi: 10.3390/ijms22073445. PMID: 33810554Free PMC Article
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A
J Med Genet 2021 Mar;58(3):178-184. Epub 2020 May 19 doi: 10.1136/jmedgenet-2019-106498. PMID: 32430359Free PMC Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
CDKN1C mutations: two sides of the same coin.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M
Trends Mol Med 2014 Nov;20(11):614-22. Epub 2014 Sep 25 doi: 10.1016/j.molmed.2014.09.001. PMID: 25262539
Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives.
Cohen MM Jr
Pediatr Dev Pathol 2005 May-Jun;8(3):287-304. Epub 2005 Jul 14 doi: 10.1007/s10024-005-1154-9. PMID: 16010495

Therapy

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.
Vals MA, Yakoreva M, Kahre T, Mee P, Muru K, Joost K, Teek R, Soellner L, Eggermann T, Õunap K
Genet Test Mol Biomarkers 2015 Dec;19(12):684-91. Epub 2015 Oct 27 doi: 10.1089/gtmb.2015.0163. PMID: 26505556Free PMC Article
Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
Cardarelli L, Sparago A, De Crescenzo A, Nalesso E, Zavan B, Cubellis MV, Selicorni A, Cavicchioli P, Pozzan GB, Petrella M, Riccio A
Pediatr Dev Pathol 2010 Jul-Aug;13(4):326-30. doi: 10.2350/09-07-0686-CR.1. PMID: 20028213
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.
Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER
Hum Reprod 2009 Mar;24(3):741-7. Epub 2008 Dec 10 doi: 10.1093/humrep/den406. PMID: 19073614
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.
Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C
J Med Genet 2006 Dec;43(12):902-7. Epub 2006 Jul 6 doi: 10.1136/jmg.2006.042135. PMID: 16825435Free PMC Article
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.
Rump P, Zeegers MP, van Essen AJ
Am J Med Genet A 2005 Jul 1;136(1):95-104. doi: 10.1002/ajmg.a.30729. PMID: 15887271

Prognosis

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM
Ann Lab Med 2022 Nov 1;42(6):668-677. doi: 10.3343/alm.2022.42.6.668. PMID: 35765875Free PMC Article
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.
Pappas JG
Curr Probl Pediatr Adolesc Health Care 2015 Apr;45(4):112-7. Epub 2015 Apr 7 doi: 10.1016/j.cppeds.2015.03.001. PMID: 25861997
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424

Clinical prediction guides

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P
Eur J Hum Genet 2016 Jun;24(6):784-93. Epub 2015 Oct 28 doi: 10.1038/ejhg.2015.224. PMID: 26508573Free PMC Article
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB
Eur J Hum Genet 2016 Feb;24(2):183-90. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.88. PMID: 25898929Free PMC Article
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Azzi S, Abi Habib W, Netchine I
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):30-8. doi: 10.1097/MED.0000000000000037. PMID: 24322424
Molecular biology of Beckwith-Wiedemann syndrome.
Weksberg R, Squire JA
Med Pediatr Oncol 1996 Nov;27(5):462-9. doi: 10.1002/(SICI)1096-911X(199611)27:5<462::AID-MPO13>3.0.CO;2-C. PMID: 8827075

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