Research Article

复发性罕见SOX9变异体(M469V)与先天性椎骨畸形相关

卷 19, 期 4, 2019

页: [242 - 247] 页: 6

弟呕挨: 10.2174/1566523219666190924120307

open access plus

摘要

目的:遗传变异导致很大一部分先天性椎骨畸形(CVM)。 SOX9基因是SOX基因家族的一员,与CVM有关。研究CVM患者的SOX9突变对于解释脊柱侧凸的发病机理(CVM的临床表现)和探索与SOX9相关的骨骼畸形的发病机理具有重要意义。 方法:本研究共纳入50例单身CVM患者。对所有患者进行外显子组测序(ES)。通过Sanger测序验证了SOX9基因的复发候选变体。进行荧光素酶测定以研究该变体的功能变化。 结果:在三例先天性脊柱侧弯的临床发现无其他畸形的CVM患者中,以前未报道过SOX9基因的复发性稀有杂合错义变异(NM_000346.3:c.1405A> G,p.M469V)。系统。我们内部的数据库中没有此变体,并且预测有毒(CADD = 24.5)。萤光素酶测定表明,对于两个萤光素酶报道基因,突变的SOX9蛋白的反式激活能力明显低于野生型(分别为p = 0.0202,p = 0.0082)。 结论:该SOX9突变(p.M469V)可能有助于CVM而无其他系统性畸形,这为SOX9相关骨骼畸形的表型变异提供了重要的含义和更好的理解。

关键词: SOX9基因,弯曲性发育不良,弯曲性发育不良,先天性椎骨畸形,先天性脊柱侧弯,外显子组测序。

图形摘要

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