Copy number variation

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree

X. Jin, Chen, Y. H., Liu, Z., Deng, Y., Li, N. N., Huang, H., Qi, M., Yi, X., and Zhu, J., Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree, vol. 14, pp. 10961-10972, 2015.

Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutations in OPA1 constitute the most prevalent cause of ADOA. The purpose of this study was to identify the underlying genetic defect in a Chinese pedigree with ADOA.

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