SANDO Syndrome Associated with New POLG Heterozygous Gene Mutation: Case Report

The nuclear-encoded POLG gene encodes gamma subunit of the mitochondrial DNA polymerase that is responsible for the replication of the mitochondrial DNA (mtDNA). Mutations of the POLG gene can have multiple phenotypic presentations includingsensory ataxic neuropathy with dysarthria and ophthalmoplegia or SANDO syndrome, first described in 1997. At the molecular level, A467T and W748S POLG mutations have been described in SANDO. We describe a novel mutation of the DNA polymerase subunit gamma (POLG) gene with a phenotypic presentation of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis Syndrome (SANDO).