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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: G517V
cDNA Position: 1550 g→t (exon 8)
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Disease | Genetics | Frequency | Reference |
Ataxia - neuropathy | Found in trans w/ E1143G in a father and his 8 y.o. daughter w/ exercise intolerance, ataxia, and neuropathy. | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |
Leigh Syndrome | Found as a heterozygous mutation in a female pt. w/ dominant ataxia and neuropathy | Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation L428P. 19% (9 out of 50) had various mutations in POLG. | (Sarzi et al., 2007) PubMed |
Myopathy and micro-cephaly | Found in trans w/ D1196N and R1128H | (Wong et al., 2008) PubMed |
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adPEO | Heterozygous, short-stature, Leigh-like disease, neuropathy, stroke, dystonia, chorea, diabetes, myoclonus, Sideroblastic anemia, splenomegaly, Pearson Syndrome to KSS | (Wong et al., 2008) PubMed |
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Myoclonic epilepsy | In trans w/R722H, and in association w/ a mutation in SCN1A, R1645Q | (Bolszak et al., 2009) PubMed |
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Cerebellar ataxia, dystonia, epilepsy, PEO, hypotonia, mental retardation, and chorea | ad, 4 patients ages 4-40 yrs. | <0.5% in a Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
Seizures, hypoglycemia, myoclonus, hypotonia, and developmental delay | Heterozygous, found in 2 half siblings and their unaffected mother | (Burusnukul and de los Reyes, 2009) PubMed |
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Cerebellar ataxia, PEO, and dysphagia | Heterozygous. Found in a 44 yr. old patient | (Schulte et al., 2009) PubMed |
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Diabetes, strokes, psychosis, and epilepsy | Heterozygous. Ad, found in twins, their mother, and grandmother | (Hopkins et al., 2009) PubMed |
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PEO | 56 y.o. male with a heterozygous mutation, and ptosis, myopathy, neuropathy, and mtDNA deletions. | (Ferreira et al., 2011) PubMed |
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PEO | Found as a heterozygous mutation in a 33 y.o. female with PEO and mtDNA deletions. Father also affected. | (Ferreira et al., 2011) PubMed |
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PEO | Found in cis w/ Y955C in a 47 y.o. w/ PEO, ptosis, myopathy, and neuropathy | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Seizures and mitochondrial myopathy | Found as a heterozygous mutation in a 56 y.o. woman with mitochondrial myopathy, seizures, ataxia, dysarthria, and dysphonia | 1 in 322 mitochondrial disease patients | (Woodbridge et al., 2012) PubMed |
Neuronal ceroid lipofuscinosis | Maternally inherited heterozygous mutation found with a mutation in CLN5. Infant with hypotonia, bilateral ptosis, and diffuse cerebral atrophy. A 45% reduction in mtDNA compared to controls. | (Staropoli et al., 2012) PubMed |
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Neutral polymorphism | Biochmeical analysis of the recombinant Pol gamma with G517V revealed wild type activity | (Kasiviswanathan and Copeland, 2011) PubMed |
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Parkinsonism | Found in a male 42 y.o. male with a RAB39B variant. Has L- DOPA response, spastic paraparesis, cerebellar dysfunction, and early Parkinsonism. | 1of 344 Parkinson patients | (M. Guldner, el al. 2016) PubMed |
PEO | Found in trans w/Q1236H in a 23 y.o. with PEO and hypostenia. | (Pozzo et al., 2017) PubMed |