title: Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish MNGIE patients are investigated for mtDNA deletions and TP gene mutations. The probands presented all the clinical criteria of the typical MNGIE phenotype; the muscle biopsy specimens also confirmed the diagnosis with ragged red fibres and cytochrome C oxidase (COX) negative fibres. The mitochondrial DNA analysis revealed no deletions in the probands' skeletal muscle samples. We have identified four novel mutations in the TP gene while one of the patients also harboured a nucleotide change, which was previously reported as a mutation.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Hacettepe University Ankara, Turkey.
authors.forename: Y Cetin
authors.initials: YC
authors.lastname: Kocaefe
authors.forename: Sevim
authors.initials: S
authors.lastname: Erdem
authors.forename: Meral
authors.initials: M
authors.lastname: Ozgüç
authors.forename: Ersin
authors.initials: E
authors.lastname: Tan
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D004272:DNA, Mitochondrial; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA; D013577:Syndrome; D013939:Thymidine Phosphorylase / Q000235:genetics*; D014421:Turkey
chemical_list: D004272:DNA, Mitochondrial; D013939:Thymidine Phosphorylase