| H00713 | |
| H番号 | H00713 |
| 名称 | ベックウィズ・ウイーデマン症候群 |
| 概要 | Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in a cluster of imprinted genes found within a genomic region of approximately one megabase on chromosome 11p15. The imprinted region 11p15 is separated into two domains, with each domain regulated by a functionally independent imprinting control regions (ICR). The centromeric ICR2 regulates the expression of CDKN1C, KCNQ1, and further genes. The majority of cases of BWS show hypomethylation in the ICR2 or mutations in the ICR2-regulated CDKN1C gene. In intron 10 of the KCNQ1 locus, the untranslated KCNQ1OT1 RNA is encoded. KCNQ10T1 is expressed by the paternal allele and probably represses realization of the CDKN1C gene. In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions or mutations. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | CDKN1C [HSA:1028] [KO:K09993] IGF2 [HSA:3481] [KO:K13769] KCNQ1 [HSA:3784] [KO:K04926] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | BWS and the growth retardation disorder Russell-Silver syndrome [DS:H00713] present two genetically and clinically opposite clinical pictures. |
| リンク | ICD-11: LD2C ICD-10: Q87.3 MeSH: D001506 OMIM: 130650 |
| 文献 | PMID:20803657 著者 Choufani S, Shuman C, Weksberg R タイトル Beckwith-Wiedemann syndrome. 雑誌 Am J Med Genet C Semin Med Genet 154C:343-54 (2010) DOI:10.1002/ajmg.c.30267 PMID:12668598 著者 Weksberg R, Smith AC, Squire J, Sadowski P タイトル Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. 雑誌 Hum Mol Genet 12 Spec No 1:R61-8 (2003) DOI:10.1093/hmg/ddg067 PMID:19407494 著者 Eggermann T タイトル Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. 雑誌 Horm Res 71 Suppl 2:30-5 (2009) DOI:10.1159/000192433 PMID:21282187 著者 Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A タイトル Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. 雑誌 Hum Mol Genet 20:1363-74 (2011) DOI:10.1093/hmg/ddr018 PMID:14997421 著者 Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L タイトル Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. 雑誌 Am J Hum Genet 74:715-20 (2004) DOI:10.1086/383093 |