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Beckwith-Wiedemann syndrome due to 11p15 microdeletion

MedGen UID:
1826104
•Concept ID:
C5680919
•
Disease or Syndrome
Monarch Initiative: MONDO:0016477
Orphanet: ORPHA231127

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Recent clinical studies

Etiology

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T
Clin Genet 2017 Jan;91(1):73-78. Epub 2016 Jun 30 doi: 10.1111/cge.12803. PMID: 27172843
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C
Eur J Hum Genet 2013 Jul;21(7):784-7. Epub 2012 Nov 21 doi: 10.1038/ejhg.2012.252. PMID: 23169491Free PMC Article
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.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A
Hum Mol Genet 2013 Feb 1;22(3):544-57. Epub 2012 Oct 30 doi: 10.1093/hmg/dds465. PMID: 23118352Free PMC Article
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G
J Med Genet 2010 Jun;47(6):429-32. Epub 2009 Oct 20 doi: 10.1136/jmg.2009.071142. PMID: 19843502
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A
Hum Mol Genet 2007 Feb 1;16(3):254-64. Epub 2006 Dec 11 doi: 10.1093/hmg/ddl448. PMID: 17158821

Diagnosis

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T
Clin Genet 2017 Jan;91(1):73-78. Epub 2016 Jun 30 doi: 10.1111/cge.12803. PMID: 27172843
Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
Liu W, Zhang R, Wei J, Zhang H, Yu G, Li Z, Chen M, Sun X
Cytogenet Genome Res 2015;146(1):9-18. Epub 2015 Jul 16 doi: 10.1159/000435847. PMID: 26184742
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R
Am J Med Genet A 2012 Jun;158A(6):1388-94. Epub 2012 May 14 doi: 10.1002/ajmg.a.35358. PMID: 22585446
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G
J Med Genet 2010 Jun;47(6):429-32. Epub 2009 Oct 20 doi: 10.1136/jmg.2009.071142. PMID: 19843502
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A
Hum Mol Genet 2007 Feb 1;16(3):254-64. Epub 2006 Dec 11 doi: 10.1093/hmg/ddl448. PMID: 17158821

Prognosis

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.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A
Hum Mol Genet 2013 Feb 1;22(3):544-57. Epub 2012 Oct 30 doi: 10.1093/hmg/dds465. PMID: 23118352Free PMC Article
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R
Am J Med Genet A 2012 Jun;158A(6):1388-94. Epub 2012 May 14 doi: 10.1002/ajmg.a.35358. PMID: 22585446

Clinical prediction guides

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E
J Med Genet 2021 Mar;58(3):173-176. Epub 2020 May 23 doi: 10.1136/jmedgenet-2020-106868. PMID: 32447323
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.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A
Hum Mol Genet 2013 Feb 1;22(3):544-57. Epub 2012 Oct 30 doi: 10.1093/hmg/dds465. PMID: 23118352Free PMC Article
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G
J Med Genet 2010 Jun;47(6):429-32. Epub 2009 Oct 20 doi: 10.1136/jmg.2009.071142. PMID: 19843502
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A
Hum Mol Genet 2007 Feb 1;16(3):254-64. Epub 2006 Dec 11 doi: 10.1093/hmg/ddl448. PMID: 17158821

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