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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。

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