Beckwith-Wiedemann; exomphalos-macroglossia-gigantism syndrome
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Genetics
- autosomal dominant with variable penetrance, from contiguous gene duplication at 11p15
- paternal imprinting or sporadic
- chromosomal translocations in BWS are maternal in origin
- paternal duplications of 11p15
- all known translocations in the BWSCR1 (BWS critical region 1) occur in the maternally expressed KVLQT1 gene
- abnormal imprinting affects IGF2 & H19 genes
- other imprinted BWS candidate genes include p57KIP2 (CDKN1C) HASH2/ASCL2, SLC22A18AS
- defects in NSD1 gene[4]
Clinical manifestations
- anterior abdominal wall defects
- exomphalos (omphalocele)
- prenatal & postnatal overgrowth
- macroglossia
- specific developmental defects
- predisposition to embryonal tumors
More general terms
More specific terms
- Beckwith-Wiedemann syndrome/CDKN1C gene associated
- Beckwith-Wiedemann syndrome/KVLQT1 gene associated
Additional terms
- 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)
- solute carrier family 22 member 18 antisense
References
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/9020845
- ↑ Mannens M, Wilde A. KVLQT1, the rhythm of imprinting. Nat Genet. 1997 Feb;15(2):113-5. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9020829
- ↑ OMIM #130650
- ↑ 4.0 4.1 UniProt http://www.uniprot.org/uniprot/Q96L73.html
- ↑ ARUP Consult: Beckwith-Wiedemann and Russell-Silver Syndromes https://arupconsult.com/ati/beckwith-wiedemann-and-russell-silver-syndromes