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- Title
A novel POLG gene mutation in a patient with SANDO.
- Authors
Kurt, Bulent; Naini, Ali B.; Copeland, William C.; Jiesheng Lu; DiMauro, Salvatore; Hirano, Michio
- Abstract
The human mitochondrial genome is replicated by DNA polymerase γ, which is encoded by polymerase γ gene (POLG1) on chromosome 15q25. Patients with POLG1 mutations usually present as Alpers' syndrome or progressive external ophthalmoplegia. Our patient was a 48-year old woman with sensory ataxic neuropathy, dysarthria, ophthalmoplegia, and dysphagia. Sequence analysis revealed that she has two heterozygous missense mutations in the POLG1, a c.1774C>T substitution in exon 10, which results in a p.L591F amino acid change; and a c.3286C>T substitution in exon 21, which results in a p.R1096C amino acid change. The 1774C>T substitution is a novel mutation. Previously described adult patients with one mutation in exon 10 and the other in exon 21 of POLG1 had presented with progressive external ophthalmoplegia. We now describe a patient with mutations in the same exons but suffering from the more complex clinical syndrome of sensory ataxic neuropathy, dysarthria, ophthalmoplegia
- Subjects
EYE paralysis; DNA polymerases; GENETIC mutation; EXONS (Genetics); ARTICULATION disorders
- Publication
Journal of Experimental & Integrative Medicine, 2012, Vol 2, Issue 2, p181
- ISSN
1309-4572
- Publication type
Article
- DOI
10.5455/jeim.200312.cr.001