新发基因突变致成人线粒体神经胃肠脑肌病

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。

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by A Novel

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.