协和医学杂志Issue(3)：302-306,5.DOI:10.3969/j.issn.1674-9081.2014.03.011
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 1冯云路 1吴东 1朱以诚 2陈钰 3钱家鸣1
作者信息
- 1. 中国医学科学院 北京协和医学院 北京协和医院 消化内科，北京100730
- 2. 中国医学科学院 北京协和医学院 北京协和医院 神经科，北京100730
- 3. 中国医学科学院 北京协和医学院 北京协和医院 放射科，北京100730
- 折叠
摘要
Abstract
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.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Key words
mitochondrial neurogastrointestinal encephalomyopathy/thymidine phosphorylase gene/gene mutation分类
医药卫生引用本文复制引用
谭蓓,冯云路,吴东,朱以诚,陈钰,钱家鸣..新发基因突变致成人线粒体神经胃肠脑肌病[J].协和医学杂志,2014,(3):302-306,5.
