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Beckwith-Wiedemann syndrome due to NSD1 mutation

MedGen UID:
1825953
•Concept ID:
C5680933
•
Disease or Syndrome
Monarch Initiative: MONDO:0016547
Orphanet: ORPHA238613

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeckwith-Wiedemann syndrome due to NSD1 mutation

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
Ovarian fibromatosis and sotos syndrome with a new genetic mutation.
Beurdeley M, Sabourin JC, Drouin-Garraud V, Liard A, Bachy B, Vivier PH
J Pediatr Adolesc Gynecol 2013 Apr;26(2):e39-41. Epub 2013 Jan 16 doi: 10.1016/j.jpag.2012.11.012. PMID: 23333153
Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.
Cytrynbaum CS, Smith AC, Rubin T, Weksberg R
Curr Opin Pediatr 2005 Dec;17(6):740-6. doi: 10.1097/01.mop.0000187191.74295.97. PMID: 16282780
Genetic analysis of tall stature.
Kant SG, Wit JM, Breuning MH
Horm Res 2005;64(3):149-56. Epub 2005 Sep 27 doi: 10.1159/000088589. PMID: 16192740
Clinical and molecular overlap in overgrowth syndromes.
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2005 Aug 15;137C(1):4-11. doi: 10.1002/ajmg.c.30060. PMID: 16010674

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
Ovarian fibromatosis and sotos syndrome with a new genetic mutation.
Beurdeley M, Sabourin JC, Drouin-Garraud V, Liard A, Bachy B, Vivier PH
J Pediatr Adolesc Gynecol 2013 Apr;26(2):e39-41. Epub 2013 Jan 16 doi: 10.1016/j.jpag.2012.11.012. PMID: 23333153
Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.
Cytrynbaum CS, Smith AC, Rubin T, Weksberg R
Curr Opin Pediatr 2005 Dec;17(6):740-6. doi: 10.1097/01.mop.0000187191.74295.97. PMID: 16282780
Genetic analysis of tall stature.
Kant SG, Wit JM, Breuning MH
Horm Res 2005;64(3):149-56. Epub 2005 Sep 27 doi: 10.1159/000088589. PMID: 16192740
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L
Am J Hum Genet 2004 Apr;74(4):715-20. Epub 2004 Mar 1 doi: 10.1086/383093. PMID: 14997421Free PMC Article

Clinical prediction guides

DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.
Watanabe H, Higashimoto K, Miyake N, Morita S, Horii T, Kimura M, Suzuki T, Maeda T, Hidaka H, Aoki S, Yatsuki H, Okamoto N, Uemura T, Hatada I, Matsumoto N, Soejima H
FASEB J 2020 Jan;34(1):960-973. Epub 2019 Nov 28 doi: 10.1096/fj.201901757R. PMID: 31914674Free PMC Article

Supplemental Content

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