POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
case_series · Level IV
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Abstract
The authors sequenced POLG1, C10ORF2, and ANT1 in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions. Causative mutations were identified in approximately 10% of cases, with two unrelated individuals harboring a novel premature stop codon mutation (1356T>G). None had a mutation in C10ORF2 or ANT1. In the majority of patients, the primary nuclear genetic defect is likely to affect other unknown genes important for mtDNA maintenance.
Medical subject headings
- Adenine Nucleotide Translocator 1
- DNA Primase
- DNA, Mitochondrial
- DNA-Directed DNA Polymerase
- Ophthalmoplegia, Chronic Progressive External
- Sequence Deletion