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.
authors.affiliation: Department of Pathology, Faculty of Medicine, Thammasat University, Patumthani, Thailand. kintarak@tu.ac.th
authors.forename: Jutatip
authors.initials: J
authors.lastname: Kintarak
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Tumtip
authors.initials: T
authors.lastname: Sangruchi
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Kongkiat
authors.initials: K
authors.lastname: Kulkantrakorn
authors.forename: Sombat
authors.initials: S
authors.lastname: Muengtaweepongsa
mesh_terms: D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007438:Introns; D017243:MERRF Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D017422:Sequence Analysis, DNA; D013785:Thailand; D013939:Thymidine Phosphorylase / Q000235:genetics*
chemical_list: D013939:Thymidine Phosphorylase