Publication: A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Issued Date
2007-09-01
Resource Type
ISSN
03038467
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2-s2.0-34347342885
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Mahidol University
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SCOPUS
Bibliographic Citation
Clinical Neurology and Neurosurgery. Vol.109, No.7 (2007), 613-616
Suggested Citation
Jutatip Kintarak, Teerin Liewluck, Tumtip Sangruchi, Michio Hirano, Kongkiat Kulkantrakorn, Sombat Muengtaweepongsa A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Clinical Neurology and Neurosurgery. Vol.109, No.7 (2007), 613-616. doi:10.1016/j.clineuro.2007.04.008 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/24773
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Title
A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive, multisystem disorder, which is clinically defined by ptosis, ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by mutations in the nuclear gene, endothelial cell growth factor 1 (ECGF1), encoding thymidine phosphorylase (TP). ECGF1 mutations cause severe loss of TP activity, abnormal accumulations of thymidine and deoxyuridine in plasma, and alterations of mitochondrial DNA. Here, we report the first Thai patient with MNGIE confirmed genetically by the identification of a homozygous novel ECGF1 gene mutation, c.100insC, which causes a frameshift and premature truncation of TP protein. © 2007 Elsevier B.V. All rights reserved.