关键词: IRF6 genetics non-syndromic orofacial cleft (NSOC)

Mesh : Humans Cleft Lip / genetics Cleft Palate / genetics Chromosomes, Human, Pair 2 Maxillofacial Development Interferon Regulatory Factors / genetics

来  源:   DOI:10.3290/j.cjdr.b5128515

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.
摘要:
非综合征性口面裂痕(NSOCs)是最常见的颅面畸形。在NSOCs复杂的病因和发病机制中,遗传因素起着至关重要的作用,位于1q32.2号染色体上的IRF6是记录最好的NSOC易感基因。IRF6是口腔颌面部发育的关键因素,已知在NSOCs中贡献最大。必须对IRF6的现有结果进行全面回顾,以进一步了解其在NSOCs发病机理中的作用。因此,本文从遗传和功能两个方面综述了IRF6在NSOCs中作用机制的研究进展。
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