Review on the Role of IRF6 in the Pathogenesis of Non-syndromic Orofacial Clefts.

Si Di Zhang, Yue You, Mei Lin Yao, Bing Shi, Zhong Lin Jia
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Abstract

Non-syndromic orofacial clefts (NSOCs) are the most common craniofacial malformation. In the complex aetiology and pathogenesis of NSOCs, genetic factors play a crucial role and IRF6, located at chromosome 1q32.2, is the best documented NSOC susceptibility gene. IRF6 is a key factor in oral maxillofacial development and known to contribute the most in NSOCs. It is essential to conduct a complete review of the existing results on IRF6 to further understand its role in the pathogenesis of NSOCs. Thus, the present authors summarised the research progress on the mechanism of IRF6 in NSOCs from both genetic and functional perspectives in this review.

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综述IRF6在非综合征性口腔裂隙发病机制中的作用
非综合征性口面裂(NSOC)是最常见的颅面畸形。在NSOC复杂的病因和发病机制中,遗传因素起着至关重要的作用,而位于染色体1q32.2上的IRF6是有据可查的NSOC易感基因。IRF6 是口腔颌面部发育的关键因素,已知在 NSOC 中的作用最大。为了进一步了解 IRF6 在 NSOC 发病机制中的作用,有必要对现有的 IRF6 研究成果进行全面回顾。因此,作者在本综述中从遗传和功能两个角度总结了 IRF6 在 NSOCs 中的作用机制的研究进展。
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