江波,黄宏耀

• 1:锦州医科大学研究生培养基地湖北医药学院附属随州医院(随州市中心医院)
• 2:襄阳市中心医院

摘要(Abstract)：

目的:分析腓骨肌萎缩症(CMT)2型遗传特点及致病原因。方法:收集3例来自中国的CMT2先证者及其家系资料。以全外显子测序和生物信息学分析确定与CMT2临床表型相关的突变基因。以生物信息学方法分析确定基因突变的致病性。结果:先证者1临床表型为双下肢肌肉及胸段脊旁肌肌源性损害，合并双上肢神经源性损害，为CMT2A1型；先证者2临床表型为双下肢萎缩、小腿无力、行走异常，为CMT2A2型；先证者3临床表型为足下垂、远端肌肉萎缩、远端肌无力，为CMT2D型。KIF1B/c.606C>T/p.Ala202=(同义突变)、MFN2/c.919A>G/p.K307E(错义突变)、GARS1/c.1809+2dup(碱基重复突变)变异可能为其致病原因。结论:KIF1B/c.606C>T/p.Ala202=、MFN2/c.919A>G/p.K307E、GARS1/c.1809+2dup变异可能为CMT2的致病原因，或可为CMT2的临床诊断提供参考借鉴。

关键词(KeyWords)： 腓骨肌萎缩症2型;髓鞘轴突丧失;临床表型;基因突变

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 江波,黄宏耀

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