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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: T914P
cDNA Position: 2740 a→c (exon 18)
Disease Genetics Frequency Reference
Alpers Found in trans with A467T. Not found in 300 control chromosomes (Nguyen et al., 2006) 
PubMed
Encephalopathy Found in trans with A467T in an 8 y.o. male w/encephalopathy and myoclonus . Not found in 250 control individuals (Horvath et al., 2006) 
PubMed
Alpers Found in trans with A467T in a 7 mo. female w/ Alpers Not found in 300 healthy French control chromosomes (Naimi et al., 2006)
PubMed
Alpers Found in trans w/ A467T (Wong et al., 2008)
PubMed
adPEO Heterozygous, Ptosis, exercise intolerance, fatigue, ragged red fibers (Wong et al., 2008)
PubMed
Alpers Found in trans w/R1096C, and in a 2nd pt. found in trans w/R627W. Also found in trans w/A467T in 2 other pts. Found in 2 additional pts. in trans w/W748S. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Alpers In trans w/ A467T (Taanman et al., 2008)
PubMed
Epilepsy, myoclonic, and developmental delay ar, Found as a compound heterozygous mutation w/ A467T <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Epilepsy Found heterozygous with A467T in a 10 mo. old male with myoclonic seizures and jerks, and developmental regression. (Dhamija et al., 2011)
PubMed
Alpers Found in trans with E1143G and W748S in a 2.5 y.o. with epilepsy and encephalopathy 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples (Isohanni et al., 2011)
PubMed
Seizures Found in trans w/ A467T in a 3 y.o. w/ seizures, hypotonia, encephalopathy, and developmentally delayed Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ W748S in a 5 y.o. w/ seizures Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A467T in a 5 y.o. w/ seizures, hearing loss, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ W748S in an 8 mo. w/ seizures, hypotonia, abnormal MRI, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A467T in a 9 mo. w/ seizures, hypotonia, and developmentally delayed Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures and liver failure Found in trans w/ A467T in a 4 y.o. with liver failure, seizures, and failure to thrive Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A467T in an 8 mo. w/ seizures, respiratory failure, and an abnormal MRI Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
MSCAE Found in trans w/ W748S in a 15 y.o. female with mitochondrial spinocerebellar ataxia and epilepsy. (Hinnell et al., 2012)
PubMed
Alpers Found in compound with A467T in a 15 month female with mtDNA depletion Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Epilepsy Found in compound with W748S in a 6 yo male with epilepsy and hepatic cholestasis and cytolysis, and mtDNA deletions Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
PEO Found in compound with the intronic mutation C3104+3A>T in a 37 y.o. male with PEO. Myopathy, dysphagia, and muscle weakness developed by age 55. Pt.'s older brother was diagnosed with PEO at age 65, and pt.'s adult daughters are not affected. Pt. had C (Roos et al., 2013)
PubMed
Alpers Found in trans with A467T in one baby (Hayhurst et al., 2019)
PubMed
Myopathy, PEO, and Ptosis  Found as compound heterozygous in trans with F197S in a 69 year-old man with slowly progressive bilateral ptosis and severely reduced horizontal and vertical gaze. ( Hedberg-Oldfors et al., 2020)
PubMed
MDS Found in a large cohort study. (Hikmat et al., 2020)
PubMed
Epilepsy Found in a cross-sectional study of 22676 genetic variants associated with epilepsy (SoRelle et al., 2020)
PubMed
Childhood Cancer Found in long-term survivors of childhood cancer in the St Jude lifetime cohort using whole-genome sequencing. (Qin et al., 2020)
PubMed
Alpers-Huttenlocher syndrome  Found as biallelic with A467T from a single-centre open-label phase II single arm trial to assess safety, tolerability, and efficacy of a 50:50 mixture of dC/dT, administered enterally, for people with POLG-related disorders. 2 out of 10 patients with pathogenic POLG variants. (Pekeles et al., 2024)
PubMed
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Last Reviewed: December 05, 2024