期刊
CLINICAL GENETICS
卷 84, 期 4, 页码 326-334出版社
WILEY
DOI: 10.1111/cge.12143
关键词
Beckwith-Wiedemann syndrome; genomic imprinting; imprinted genes; Silver-Russell syndrome
资金
- Canadian Institutes of Health Research (CIHR) [MOP-119357, MOP-106430]
- Canada Research Chair
- Child & Family Research Institute
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two congenital disorders with opposite outcomes on fetal growth, overgrowth and growth restriction, respectively. Although both disorders are heterogeneous, most cases of BWS and SRS are associated with opposite epigenetic or genetic abnormalities on 11p15.5 leading to opposite imbalances in the expression levels of imprinted genes. In this article, we review evidence implicating these genes in the developmental regulation of embryonic growth and placental function in mouse models. The emerging picture suggests that both SRS and BWS can be caused by the simultaneous and opposite deregulation of two groups of imprinted genes on 11p15.5. A detailed description of the phenotypic abnormalities associated with each syndrome must take into consideration the developmental functions of each gene involved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据