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Human DNA Polymerase Gamma Mutation Database

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All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: R597W
cDNA Position: 1789 c→t (exon 10)
Disease Genetics Frequency Reference
PEO with ataxia Homozygous (Stewart et al., 2009)
PubMed
PEO, seizures, and VPA induced liver failure Found as a homozygote in an 18 y.o. with PEO, neuropathy, seizures, and VPA induced hepatotoxicity Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Encephalopathy and ataxia Found in trans w/ A467T in a 26 y.o. w/ encephalopathy, ataxia, neuropathy, and ptosis. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
SANDO Found in trans w/A467T in a 20 y.o. with ataxia, polyneuropathy, ophthalmoparesis, and dysarthria, (Bereau et al., 2016)
PubMed
SMANDO syndrome Found as a homozygote in a 25-year-old Moroccan man experienced his first symptoms when he was 7 years old with progressive bilateral ptosis. (Rafai et al., 2020)
PubMed
MELAS-like syndrome Found in trans with W748S from the largest Russian cohort for mitochondrial DNA maintenance disorders. 1 out of 59 patients with POLG mutations (Bychkov et al., 2021)
PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) Found in trans with R1096C from the largest Russian cohort for mitochondrial DNA maintenance disorders. 1 out of 59 patients with POLG mutations (Bychkov et al., 2021)
PubMed
Alpers-Huttenlochers syndrome Found as compound heterzygous with R227W from the multicentric study among 22 children with POLG pathogenic variants in India. 1 out of 22 patients with POLG variants (Jha et al., 2022)
PubMed
Alpers-Huttenlochers syndrome Found as homozygous from the multicentric study among 22 children with POLG pathogenic variants in India. 1 out of 22 patients with POLG variants (Jha et al., 2022)
PubMed
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Last Reviewed: April 08, 2025