A novel thymidine phosphorylase mutation in a Spanish MNGIE patient
Copyright policy )A novel thymidine phosphorylase mutation in a Spanish MNGIE patient
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.
- King’s University United States
- Columbia University United States
- Hospital Quirón Teknon Spain
- Vall d'Hebron Hospital Universitari Spain
Adult, Male, Ophthalmoplegia, Chronic Progressive External, Genotype, DNA Mutational Analysis, Exons, Mitochondrial Encephalomyopathies, Spain, Mutation, Humans, 5'-Nucleotidase, Retrospective Studies
Adult, Male, Ophthalmoplegia, Chronic Progressive External, Genotype, DNA Mutational Analysis, Exons, Mitochondrial Encephalomyopathies, Spain, Mutation, Humans, 5'-Nucleotidase, Retrospective Studies
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