title: A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
abstract: A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Genetic analysis revealed a novel 18-base pair (bp) duplication (5044-5061 dup) in exon 8 of the thymidine phosphorylase (TP) gene. The mutation is predicted to produce a 6 amino acid insertion in the alpha-beta-domain of the protein. This 18-bp insertion in the thymidine phosphorylase gene is the first duplication mutation identified in MNGIE.
authors.affiliation: Department of Neurology, Hospital Universitari Vall d' Hebron, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Gamez
authors.forename: Maria Carmen
authors.initials: MC
authors.lastname: Lara
authors.forename: Fermin
authors.initials: F
authors.lastname: Mearin
authors.forename: Carlos
authors.initials: C
authors.lastname: Oliveras-Ley
authors.forename: Nuria
authors.initials: N
authors.lastname: Raguer
authors.forename: Montse
authors.initials: M
authors.lastname: Olive
authors.forename: Andres T
authors.initials: AT
authors.lastname: Leist
authors.forename: Antonia
authors.initials: A
authors.lastname: Perello
authors.forename: Monica
authors.initials: M
authors.lastname: Perona
authors.forename: Carlos
authors.initials: C
authors.lastname: Cervera
authors.forename: Antonio Luis
authors.initials: AL
authors.lastname: Andreu
authors.forename: Ramon
authors.initials: R
authors.lastname: Martí
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
mesh_terms: D015720:5'-Nucleotidase / Q000737:chemistry / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005838:Genotype; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000097:blood / Q000235:genetics*; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000097:blood / Q000235:genetics*; D012189:Retrospective Studies; D013030:Spain
chemical_list: D015720:5'-Nucleotidase