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Y. Li, T. Deng, Y. Tong, B. Dong; Novel Mutations in the OPA1 Gene Associated With Optic Atrophy. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1696.
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Autosomal dominant optic atrophy (ADOA) is the most common hereditary optic neuropathy with an estimated prevalence of 1 in 1,0000 to 1 in 50,000. Many mutations in OPA1 gene, encoding a dynamin-related mitochondrial protein, have been identified as the cause of ADOA. To further characterize the role of the OPA1 gene in optic atrophy, mutations screening has been undertaken in a cohort of affected patients with optic atrophy from China.
Two unrelated families with ADOA, including 10 patients and 8 unaffected relatives, and 30 sporadic optic atrophy patients were examined clinically. One hundred normal Chinese individuals served as control subjects. Genomic DNA was extracted from venous blood of all participants. The coding region including intron-exon boundary of the OPA1 gene was amplified by polymerase chain reaction (PCR). The PCR products were analyzed using direct sequencing and single strand conformation polymorphism (SSCP).
Fundus examination revealed clinical features of optic atrophy with bilateral temporal atrophy or complete pallor. Sequencing of the OPA1 gene identified three mutations in one family and two independent patients. The mutations include one missense (S302R), one deletion (c .2708del TTAG), and 1 point A→G transversion (IVS9-2A>G) in splice accepter site. Two of these mutations are novel.
Our findings further establish the involvement of OPA1 mutation in Chinese patients with optic atrophy.
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