Home|Journals|Articles by Year

Directory for Medical Articles
 

Case Report



A novel POLG gene mutation in a patient with SANDO

Bulent Kurt, Ali B. Naini, William C. Copeland, Jiesheng Lu, Salvatore DiMauro, Michio Hirano.


Abstract
Cited by (1)

The human mitochondrial genome is replicated by DNA polymerase gamma, which is encoded by polymerase gamma gene (POLG1) on chromosome 15q25. Patients with POLG1 mutations usually present as AlpersÂ’ 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.

Key words: Novel mutation; PEO; POLG1; SANDO






Full-text options


Share this Article



Online Article Submission
• ejmanager.com







eJManager.com
Review(er)s Central
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.