A Novel OPA1 Mutation Reponible for Autoomal Dominant Optic Atrophy with High Frequency Hearing Lo in a Chinee Family

Purpoe To invetigate the genetic finding and phenotypic character of autoomal dominant optic atrophy (ADOA). Deign Cae report and experimental tudy. Method Molecular genetic analyi and clinical examination were performed in a Chinee family with ADOA. Mutation in OPA1 were detected by direct equencing. Haplotype were contructed and compared with the phenotype in the family. Reult Nine family member were diagnoed with ADOA and ome of them were accompanied with hearing lo and/or high myopia. A novel heterozygou mutation, c.2848_2849delGA(p.Ap950CyfX4), wa detected in all ADOA patient. The mutation and the mutation bearing haplotype coegregated with the nine affected member. One family member had high myopia without viion or hearing lo. Thi patient along with unaffected one did not harbor the mutation. Concluion A novel mutation, c.2848_2849delGA in OPA1, wa identified in a Chinee family with ADOA. Thi mutation i aociated with hearing lo, but likely not high myopia.