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POLG2(accessory subunit for the mitochondrial DNA polymerae gamme) is an accessory protein hat plays a crucial role in mitochondrial DNA replication and repair by enhancing DNA binding for the DNA polymerase and enhancing processivity of DNA replication. Mutations in POLG2gene can be autosomal dominant or recessive. Autosomal dominant mutation cause adult onset progressive external ophthalmoplegia while autosomal recessive disease in patients with both POLG2genes affected can cause early childhood haptocerrebral defects.

Some of the diseases associated with mutations in the POLG2gene include:

1. Infantile-onset encephalopathy: It is a severe, progressive disorder that affects infants and children. Symptoms usually start with seizures, followed by liver failure, loss of cognitive and motor skills, and eventual death.

2. Autosomal dominant progressive external ophthalmoplegia (adPEO): It is a milder form of PEO that typically starts in adulthood. Symptoms include ptosis (droopy eyelids), difficulty moving the eyes, and weakness in other muscles.

The severity and age of onset of these disorders can vary widely, even among individuals with the same mutation in the POLG gene.