结节性硬化症TSC1和TSC2基因型与临床表型相关性研究

被引：22

作者：

梅道启 ^{[1
]}

符娜 ^{[2
]}

秦炯 ^{[2
]}

机构：

[1] 郑州大学附属儿童医院河南省儿童医院郑州儿童医院东区神经内科

[2] 北京大学人民医院儿科

来源：

临床儿科杂志 | 2018年 / 36卷 / 09期

关键词：

结节性硬化症; TSC1基因; TSC2基因; 临床表型;

D O I：

暂无

中图分类号：

R725.9 [小儿全身性疾病];

学科分类号：

100201 [内科学];

摘要：

目的探讨结节性硬化症TSC1和TSC2基因型与临床表型相关性。方法对2016年8月至2017年8月就诊的30例临床诊断为结节性硬化症的患儿行TSC1、TSC2基因分析,并进行基因型-表型关系分析。结果 30例患儿中,男22例、女8例,中位年龄6.45岁。5例发现TSC1基因突变、22例发现TSC2基因突变,突变率90%。TSC1和TSC2基因突变类型有5种,错义突变、无义突变、大片段缺失、移码突变和剪切突变,以无义突变、剪切突变和移码突变的发生率最高。其中TSC1基因仅发现剪切突变和移码突变;TSC2基因上述5种突变均有发现。共发现12种结节性硬化症的临床表型,其中以面部血管纤维瘤、癫痫和智力低下的发生率最高。癫痫发生在TSC2和TSC1基因型之间的差异有统计学意义(P<0.05)。结论结节性硬化症临床表型和突变类型较多,TSC2基因突变频率大于TSC1基因,TSC2基因突变更易引发严重的结节性硬化症的临床表现。

引用

页码：678 / 682

页数：5

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