Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
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DOI：
10.1002/ajmg.c.30058
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发表时间：
2005-08-15
影响因子：
3.1
通讯作者：
Smith, AC
中科院分区：
文献类型：
--
作者：
Weksberg, R;Shuman, C;Smith, AC
Beckwith-Wiedemann综合征（BWS）是一种临床异质性过度生长综合征，与胚胎肿瘤发展风险增加相关。BWS为研究表观遗传机制提供了理想的模型系统。这种情况是由人类染色体11 p15上印记生长调节基因的两个结构域内的各种遗传或表观遗传改变引起的。BWS的分子研究提供了关于表观基因型/基因型-表型相关性的重要数据;例如，结构域1的改变与肿瘤发展的最高风险相关，特别是Wilms肿瘤。此外，BWS单卵双胞胎的分子基础的阐明定义了一个关键时期的印记维持在植入前胚胎发育。在未来，这样的分子研究在BWS将允许加强医疗管理和有针对性的遗传咨询。(c)2005 Wiley-Liss，Inc.
Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic alterations within two domains of imprinted growth regulatory genes on human chromosome 11p15. Molecular studies of BWS have provided important data with respect to epigenotype/genotype-phenotype correlations; for example, alterations of Domain 1 are associated with the highest risk for tumor development, specifically Wilms' tumor. Further, the elucidation of the molecular basis for monozygotic twinning in BWS defined a critical period for imprint maintenance during pre-implantation embryonic development. In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling. (c) 2005 Wiley-Liss, Inc.