TYMP基因新突变型线粒体神经胃肠脑肌病1例报告及文献回顾  

A novel TYMP mutation of mitochondrial neurogastrointestinal encephalomyopathy: case report and literature review

作　　者：董明明[1] 张慧媛[1] 薛维爽[1] 滕伟禹[1] 

机构地区：[1]中国医科大学附属第一医院神经内科,辽宁沈阳110001

出　　处：《中风与神经疾病杂志》2016年第3期238-241,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨线粒体神经胃肠脑肌病患者的临床表现及基因突变情况。方法分析1例线粒体神经胃肠脑肌病患者的临床资料。提取外周血单核细胞DNA进行基因测序。结果该患者表现为进行性加重的胃肠道症状、脑白质病、恶液质、周围神经病及眼外肌无力。基因检测发现TYMP基因c.417+1G>A纯合变异为该患者的致病突变,该突变为新发突变。结论经基因检测确诊TYMP基因新发突变致线粒体神经胃肠脑肌病。Objective To analyze the clinical features and genetic background of mitochondrial neurogastrointestinal encephalomyopathy（ MNGIE）. Methods The clinical data of a patient with MNGIE were retrospectively reviewed.Meanwhile,the gene of the patient were detected from DNA extracted from peripheral blood mononuclear cells. Results This patient presented with progressive gastrointestinal symptoms,leukoencephalopathy,cachexia,peripheral neuropathy and extraocular muscle weakness. A novel homozygous mutation（ TYMP gene c. 417 ＋ 1G A） was identified. Conclusion A novel TYMP gene mutation that caused MNGIE in this patient was confirmed by gene detection.

关 键 词：线粒体神经胃肠脑肌病 胸腺嘧啶核苷酸磷酸化酶基因 基因突变 

分 类 号：R746.9[医药卫生—神经病学与精神病学]