Genetic analysis of non-syndrornic craniosynostosis
Genetic analysis of non-syndrornic craniosynostosis
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DOI：
10.1111/j.1601-6343.2007.00393.x
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发表时间：
2007-08-01
影响因子：
3.1
通讯作者：
Boyadjiev, S. A.
中科院分区：
文献类型：
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作者：
Boyadjiev, S. A.
颅缝融合是一种常见的畸形，每10,000名活产儿中有3-5名发生。最常见的情况是，颅缝融合是一种孤立的(即非综合征的)异常。非综合征性颅缝融合症(NSC)是一种临床和遗传上的异质性疾病，具有多因素特征，认为每一种缝合性融合(如矢状位、冠状位)代表不同的疾病。在了解单基因综合征颅缝早闭的临床和分子方面已取得重大进展。然而，NSC的表型特征尚不完整，其原因尚不清楚。这篇综述总结了有关神经干细胞的现有知识，并提出了一种系统的方法，旨在识别导致这种常见头面部缺陷风险的遗传和非遗传因素。
Craniosynostosis is a common malformation occurring in 3-5 per 10 000 live births. Most often craniosynostosis occurs as an isolated (i.e. non-syndromic) anomaly. Non-syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait, It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a different disease. Significant progress has been made in understanding the clinical and molecular aspects of monogenic syndromic craniosynostosis. However, the phenotypic characterization of NSC is incomplete and its causes remain unknown. This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non-genetic factors contributing to the risk of this common craniofacial defect.