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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R597W
cDNA Position: 1789 c→t (exon 10)
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Disease | Genetics | Frequency | Reference |
PEO with ataxia | Homozygous | (Stewart et al., 2009) PubMed |
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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 |
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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 |
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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 |