CAJ | 학술논문

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.217 G＞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。
목적：탐토선립체신경위장뇌기병환자적림상표현급기인돌변정황。방법분석1례성인선립체신경위장뇌기병환자림상자료，대환자급기가계선립체병상관기인응용NimbleGen고상심편진행목표구역포획측서。결과해환자표현위진행성가중적가성위장경조、뇌백질병、악액질、주위신경병、안외기무력급다충대사문란。기인검측발현TYMP기인c.217 G＞A순합돌변위해환자적치병돌변，환자부모（근친혼배）급저저균위해돌변잡합자，해돌변위신발돌변。결론경기인검측학진TYMP기인신발돌변치성인선립체신경위장뇌기병。
Objective To analyze the clinical features and genetic background of mitochondrial neurogastrointestinal encephalomyopathy(MNGIE). Methods The clinical data of an adult patient with MNGIE wereretrospectively reviewed. Meanwhile, the mitochondrial disease-related gene of the patient and his families weredetected by target area capture sequencing with NimbleGen solid phase chip. Results This patient presented with progressive pseudo-gastrointestinal obstruction, leukoencephalopathy, cachexia, peripheral neuropathy, extraocularmuscle 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.