Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees

We analyzed the gene-phenotypic associations of 4 patients in conjunction with previous reports which added to the current understanding of C12orf65-related neurodegenerative disorders. The superimposed mutations in 2 of these patients suggest that the heterogeneity of optic neuropathy and the systemic features associated with C12orf65 pathogenic variants may be altered by the genetic background of mitochondrial or nuclear genes that influence mitochondrial function. We recommend genetic evaluation of C12ORF65-related diseases, including other genes responsible for optic neuropathy, and not just limited to Sanger sequencing.