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Beckwith-Wiedemann; exomphalos-macroglossia-gigantism syndrome

Genetics: 1) autosomal dominant with variable penetrance, from contiguous gene duplication at 11p15 2) paternal imprinting or sporadic 3) chromosomal translocations in BWS are maternal in origin 4) paternal duplications of 11p15 5) all known translocations in the BWSCR1 (BWS critical region 1) occur in the maternally expressed KVLQT1 gene 6) abnormal imprinting affects IGF2 & H19 genes 7) other imprinted BWS candidate genes include p57KIP2 (CDKN1C) HASH2/ASCL2, SLC22A18AS 8) defects in NSD1 gene [4] Clinical manifestations: 1) anterior abdominal wall defects 2) exomphalos (omphalocele) 3) prenatal & postnatal overgrowth 4) macroglossia 5) specific developmental defects 6) predisposition to embryonal tumors

Related

Achaete-scute homolog 2; ASH-2; hASH2; mash2; class A basic helix-loop-helix protein 45; bHLHa45 (ASCL2, BHLHA45 HASH2) cyclin-dependent kinase inhibitor 1C; cyclin-dependent kinase inhibitor p57; p57KIP2 (CDKN1C KIP2) KVLQT1 gene solute carrier family 22 member 18 antisense (SLC22A18AS, solute carrier family 22 member 1-like antisense, SLC22A1LS, Beckwith-Wiedemann syndrome chromosome region 1 candidate protein B, BWR1B, p27-Beckwith-Wiedemann region 1 B, p27-BWR1B, organic cation transporter-like protein 2-antisense, ORCTL2S)

Specific

Beckwith-Wiedemann syndrome/CDKN1C gene associated Beckwith-Wiedemann syndrome/KVLQT1 gene associated

General

overgrowth syndrome; overgrowth malformation disorder

Properties

ASSOCIATED-NEOPLASM[S]: adrenal cortical carcinoma Wilm's tumor hepatoblastoma rhabdomyosarcoma Wilm's tumor teratoma :SITE stomach

Database Correlations

OMIM 130650

References

  1. Lee MP, Hu RJ, Johnson LA, Feinberg AP. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet. 1997 Feb;15(2):181-5. PMID: 9020845
  2. Mannens M, Wilde A. KVLQT1, the rhythm of imprinting. Nat Genet. 1997 Feb;15(2):113-5. PMID: 9020829
  3. OMIM #130650
  4. UniProt :accession Q96L73
  5. ARUP Consult: Beckwith-Wiedemann and Russell-Silver Syndromes https://arupconsult.com/ati/beckwith-wiedemann-and-russell-silver-syndromes