A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

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 nucl...

Full description

Saved in:
Bibliographic Details
Main Authors: Jutatip Kintarak, Teerin Liewluck, Tumtip Sangruchi, Michio Hirano, Kongkiat Kulkantrakorn, Sombat Muengtaweepongsa
Other Authors: Faculty of Medicine, Thammasat University
Format: Article
Published: 2018
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/24773
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Mahidol University
id th-mahidol.24773
record_format dspace
spelling th-mahidol.247732018-08-24T09:01:54Z A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Jutatip Kintarak Teerin Liewluck Tumtip Sangruchi Michio Hirano Kongkiat Kulkantrakorn Sombat Muengtaweepongsa Faculty of Medicine, Thammasat University Mahidol University Columbia University, College of Physicians and Surgeons Medicine 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. 2018-08-24T02:01:54Z 2018-08-24T02:01:54Z 2007-09-01 Article Clinical Neurology and Neurosurgery. Vol.109, No.7 (2007), 613-616 10.1016/j.clineuro.2007.04.008 03038467 2-s2.0-34347342885 https://repository.li.mahidol.ac.th/handle/123456789/24773 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=34347342885&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Medicine
spellingShingle Medicine
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)
description 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.
author2 Faculty of Medicine, Thammasat University
author_facet Faculty of Medicine, Thammasat University
Jutatip Kintarak
Teerin Liewluck
Tumtip Sangruchi
Michio Hirano
Kongkiat Kulkantrakorn
Sombat Muengtaweepongsa
format Article
author Jutatip Kintarak
Teerin Liewluck
Tumtip Sangruchi
Michio Hirano
Kongkiat Kulkantrakorn
Sombat Muengtaweepongsa
author_sort Jutatip Kintarak
title A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
title_short A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
title_full A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
title_fullStr A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
title_full_unstemmed A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
title_sort novel ecgf1 mutation in a thai patient with mitochondrial neurogastrointestinal encephalomyopathy (mngie)
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/24773
_version_ 1763488946041389056

Similar Items