Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
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DOI：
10.1002/bdra.23002
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发表时间：
2012-03-01
影响因子：
--
通讯作者：
Kibar, Zoha
中科院分区：
文献类型：
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作者：
Allache, Redouane;De Marco, Patrizia;Kibar, Zoha
背景神经管缺陷（NTDs），包括无脑畸形和脊柱裂，具有复杂的病因。平面细胞极性（PCP）信号通路的缺陷在动物模型和人类队列中与NTDs密切相关。在这项遗传学研究中，我们检测了NTDs和尾侧发育病例中PCP核心基因CELSR1，以确定该基因突变是否易导致这些缺陷。方法：我们对473例患有各种形式的开放式和封闭式NTDs（412例）或尾侧发育不全（61例）的患者的CELSR1编码区和外显子-内含子连接进行了测序。新奇及罕见变种(
BACKGROUND Neural tube defects (NTDs), including anencephaly and spina bifida, have a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been strongly associated with NTDs in animal models and human cohorts. In this genetic study, we examined the core PCP gene CELSR1 in NTDs and caudal agenesis cases to determine whether mutations at this gene predispose to these defects. METHODS: We sequenced the coding region and the exon-intron junctions of CELSR1 in a cohort of 473 patients affected with various forms of open and closed NTDs (412) or caudal agenesis (61). Novel and rare variants (