Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by A Novel TYMP Gene Mutation in An Adult Patient
10.3969/j.issn.1674-9081.2014.03.011
- VernacularTitle:新发基因突变致成人线粒体神经胃肠脑肌病
- Author:
Bei TAN
1
;
Yun-Lu FENG
;
Dong WU
;
Yi-Cheng ZHU
;
Yu CHEN
;
Jia-Ming QIAN
Author Information
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
- Keywords:
mitochondrial neurogastrointestinal encephalomyopathy;
thymidine phosphorylase gene;
gene mutation
- From:
Medical Journal of Peking Union Medical College Hospital
2014;(3):302-306
- CountryChina
- Language:Chinese
-
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.
