协和医学杂志

2014, v.5(03) 302-306

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新发基因突变致成人线粒体神经胃肠脑肌病
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by A Novel TYMP Gene Mutation in An Adult Patient

谭蓓;冯云路;吴东;朱以诚;陈钰;钱家鸣;
TAN Bei;FENG Yun-lu;WU Dong;ZHU Yi-cheng;CHEN Yu;QIAN Jia-ming;Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;

摘要(Abstract):

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例成人线粒体神经胃肠脑肌病患者临床资料,对患者及其家系线粒体病相关基因应用NimbleGen固相芯片进行目标区域捕获测序。结果该患者表现为进行性加重的假性胃肠梗阻、脑白质病、恶液质、周围神经病、眼外肌无力及多种代谢紊乱。基因检测发现TYMP基因c.217G>A纯合突变为该患者的致病突变,患者父母(近亲婚配)及姐姐均为该突变杂合子,该突变为新发突变。结论经基因检测确诊TYMP基因新发突变致成人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 an adult patient with MNGIE were retrospectively reviewed. Meanwhile,the mitochondrial disease-related gene of the patient and his families were detected by target area capture sequencing with NimbleGen solid phase chip. Results This patient presented with progressive pseudo-gastrointestinal obstruction,leukoencephalopathy,cachexia,peripheral neuropathy,extraocular muscle weakness,and multiple metabolic disorders. A homozygous mutation( TYMP gene c. 217G > A)was identified. The patient's parents and sister were heterozygous for this novel mutation. Conclusion A novel TYMP gene mutation that caused MNGIE in a Chinese adult patient was confirmed by gene detection.

关键词(KeyWords): 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
mitochondrial neurogastrointestinal encephalomyopathy;thymidine phosphorylase gene;gene mutation

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作者(Author): 谭蓓;冯云路;吴东;朱以诚;陈钰;钱家鸣;
TAN Bei;FENG Yun-lu;WU Dong;ZHU Yi-cheng;CHEN Yu;QIAN Jia-ming;Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;

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