Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by A Novel TYMP Gene Mutation in An Adult Patient

Bei TAN; Yun-lu FENG; Dong WU; Yi-cheng ZHU; Yu CHEN; Jia-ming QIAN

doi:10.3969/j.issn.1674-9081.2014.03.011

Bei TAN, Yun-lu FENG, Dong WU, Yi-cheng ZHU, Yu CHEN, Jia-ming QIAN. Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by A Novel TYMP Gene Mutation in An Adult Patient[J]. Medical Journal of Peking Union Medical College Hospital, 2014, 5(3): 302-306. DOI: 10.3969/j.issn.1674-9081.2014.03.011

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Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by A Novel TYMP Gene Mutation in An Adult Patient

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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.

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Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by A Novel TYMP Gene Mutation in An Adult Patient

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