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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: A467T
cDNA Position: 1399 g→a (exon 7)
Disease Genetics Frequency Reference
PEO Found as compound with L304R and R3P in PEO.  Also found as a homozygous mutation in a PEO pt. Three out of 229 control individuals were heterozygous for A467T (allele T frequency 0.6%), while the R3P and L304R mutations were not observed. (Van Goethem et al., 2001)
PubMed
PEO Found as compound with S1104C in a 48 y.o. pt. with PEO  7 out of 27patients w/sporadic PEO compared to 250 controls individuals had a mutation in POLG (Agostino et al., 2003)
PubMed
PEO Found in compound with G268A Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians  (Di Fonzo et al., 2003)
PubMed
PEO Found as compound with R627Q, L304R or R3P, or G268A   Van Goethem, 2003: absent in 612 Belgian controls. (Van Goethem et al., 2003a)
PubMed
MERRF homozygous mutation in an 18 y.o. patient w/ myoclonus, seizure, and sensory ataxic neuropathy (Van Goethem et al., 2003b)
PubMed
Alpers Found in compound het with E873stop in Alpers w/ mtDNA depletion (Naviaux and Nguyen, 2004)
PubMed
Neurodegenerative disorders and ataxia Found as a homozygous mutation in 2 of 8 patient w/ ataxia and neurological disorders. Also found in trans with E1143G/W748S in a 2nd patient. (Van Goethem et al., 2004)
PubMed
(Chan et al., 2005a)
PubMed
Alpers Studied Alpers pt. fibroblasts with the compound het with E873stop w/ mtDNA depletion. Determined that transcripts containing this stop codon undergo nonsense-associated alternative splicing and nonsense-mediated decay. (Chan et al., 2005b)
PubMed
Infantile Hepatocerebral Syndrome Found as a homozygous mutation in 1 of 9 pts. with progressive neurological and hepatic failure.  Also found as in trans w/G848S and a 3rd pt. in trans w/ A957P. Also found in trans with 3482 +2t's splice site variant in a 4th pt. 1 in 9 (11.11%) children with a combination of progressive neurological and hepatic failure, with an allelic frequency of <0.14% (0 out of 350) in the control group. ( Ferrari et al., 2005)
PubMed
ataxia-myopathy syndrome Found as a heterozygous mutation in 4 family members, and found in compound with R627Q in a 5th family member. ( Luoma et al., 2005)
PubMed
Alpers Found in trans w/ W1020X in two infants and also in trans w/ G848S in two other infants. Found as a homozygous mutation in an 8.5 y.o. male. (Nguyen et al., 2005)
PubMed
Ataxia Syndrome Found as a homozygous mutation in 2 members of the same family with mtDNA deletions (Winterthun et al., 2005)
PubMed
PEO Found as a homozygous mutation in a 33 y.o. male with mtDNA deletions 24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population. (Gonzalez-Vioque et al., 2006)
PubMed
Encephalopathy, liver disorders, and PEO A467T is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counseling. Studied a large collection of patients with clinical, biochemical and molecular genetic evide Not found in 250 control individuals (Horvath et al., 2006)
PubMed
Oxidative phosphorylation enzyme complex deficiencies Found as a homozygous mutation in 1 of 8 patients. Also found in trans w/ R227W, R227P, W235X, G848S, and A957P. de Vries et al. , 2007 identified 1 (4.76%) children out of 21 with a POLG mutation that were known to have a mitochondrial disorder (de Vries et al., 2007)
PubMed
Liver failure, encephalopathy, and epilepsy Found in trans w/ R574W, G848S, W748S in children w/ progressive encephalopathy. Not found in 200 control alleles (Kollberg et al., 2006)
PubMed
Alpers Found in trans w/ T914P, T326fsX38, and G380D Not found in 300 healthy French control chromosomes (Naimi et al., 2006)
PubMed
Epilepsy, PEO, and ataxia Found as a homozygous mutation in 5 mitochondrial disease pts. Also, found in trans w/W748S in 6 pts. with mitochondrial disease. Studied in 26 mitochondrial disease patients (Tzoulis et al., 2006)
PubMed
PEO Identified a diverse range of phenotypes arising from PEO-associated amino acid substitutions introduced in the yeast pol gamma gene. (Stuart et al., 2006)
PubMed
Alpers Found as a heterozygote mutation with L428P. 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
Alpers w/ valporate induced hepatic failure Found in cis w/T885s and in trans w/Q879H and E1143G. (McFarland et al., 2008)
PubMed
Alpers, Ataxia Neuropathy, and arPEO+ Found in trans w/ L886P, Q68X, Q715X, T849H, T914P, L83P, G888S, R1138C, c.2480+1, c. 2157+5, G737R, and L424G (Wong et al., 2008)
PubMed
Alpers Found in trans w/ [R852C and G11D], and, found in trans w/ T914P in 2 additional pts.  In trans w/E873X.  In trans w/ W347_L356 del.  In trans w/G848S.  In trans w/L966R.  In trans w/R374X.  In trans w/ R417T.  In trans w/C418R.  One pt., found as a homoz (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Alpers, PEO Found in trans w/L605R, and in a 2nd pt. in trans w/ W748S. Also, found as a homozygous mutation.  Found in trans w/ T251I and P587L. Also found in trans w/ G11D and R852C. Also found in trans w/G848S. (Stewart et al., 2009)
PubMed
Alpers Found in trans w/T914P (Taanman et al., 2008)
PubMed
Alpers Found in trans w/ R574W (Spinazzola et al., 2009)
PubMed
Alpers Homozygous (Spinazzola et al., 2009)
PubMed
Alpers Found in trans w/ splice variant c.3643 +2t>c (Roels, et al., 2009)
PubMed
mtDNA depletion Found in trans w/ G8484S. (Roels, et al., 2009)
PubMed
Prematurity, epilepsy, deafness, retinitis pigmentosa, hemiparesis, and liver failure Found in trans w/ K925RfsX42 <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Alpers 5 patients found with a homozygous mutation <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Epilepsy and failure to thrive Found in trans w/ R227P <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
PEO, exercise intolerance, diabetes, and a 2nd pt. w/ cataract and myopathy 2 patients; found in trans w/ T251I + P587L <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Alpers Found in trans w/S305R <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
PEO, ptosis, polyneuropathy, ataxia, and dysarthria Found in trans w/ W748S and in compound w/ E1143G <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Epilepsy, myoclonus, polyneuropathy, ataxia, and cognitive delay; a 2nd pt. with epilepsy and MELAS-like symptoms Found in trans w/ W748S <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Epilepsy, myoclonus, and developmental delay Found in trans w/T914P <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Epilepsy, liver failure, occipital strokes, and growth retardation Found in trans w/ A957P <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Spinocerebellar ataxia, neuro-degeneration, and impaired cognitive functions ar, 2 patients ages 19 and 48 <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Epilepsy and myoclonus ar, found with E1143G <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Found with W748S in a 43 yr. old patient (Schulte et al., 2009)
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Cerebellar ataxia, sensory neuropathy, and dysphagia Homozygous. Found in 2 early 20 yr. old sisters, and only one with epilepsy (Schulte et al., 2009)
PubMed
SANDO Homozygous. Found in 2 siblings in their mid 40's. mtDNA deletions and COX1 deficient fibers in muscle biopsies (McHugh et al., 2010)
PubMed
Alpers Found in trans with G848S (Hasselmann et al., 2009)
PubMed
Hepatocerebral - Alpers symptoms Found in trans w/P1073L in 2 pt., Psychomotor delay, seizures, liver delay, and gastrointestinal dysmotility. (Kurt et al., 2010)
PubMed
Encephalopathy Found in trans w/ G303R in 2 brothers and a 3rd unrelated pt. All 3 had ataxia, epilepsy, and encephalopathy. Not found in 170 control individuals (Tzoulis et al., 2010)
PubMed
SANDO Found in trans with W748S+E1143G. Sensory ataxia, dysarthria, and opthalmoplegia. (Posada et al., 2010)
PubMed
Alpers Found as a compound heterozygote w/ a 4.7 kb POLG deletion from intron 14 thru intron 21 w/ a CGH array. Patient had early on set of Alpers and died at the age of 3.5 y.o.. The father carried the A467T mutation, and the mother the deletion. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Compton et al., 2010 and Tang et al., 2011)
PubMed
Multiple Sclerosis-like illness Found as a heterozygous mutation w/R275Q in a 63 yr. old. Pt. first diagnosed w/ optic neuritis and MS 33 yrs earlier. Currently, pt. has ragged-red muscle fibers, ptosis, myopathies, PEO, and mtDNA deletions. (Echaniz-Laguna et al., 2010)
PubMed
Alpers Found in trans w/ P625R in a 1 y.o. with epilepsy and liver failure. (Baruffini et al., 2011)
PubMed
Epilepsy Found heterozygous with T 914P 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, Q497H and W748S in a 6 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
Alpers Found in trans with T914P in a 9 mo. old with epilepsy and encephalopathy 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples (Isohanni et al., 2011)
PubMed
VPA induced liver toxicity Found in trans with L304R in a 15 y.o. pt. with VPA induced hepatotoxicity Used 968 alleles ethnically matched controls (Stewart et al., 2010)
PubMed
Alpers Found as a compound heterozygote with the splice site mutation c.1251-2a→t resulting in the deletion of exon 7. The pt. was a 3.5 y.o. male with VPA induced liver toxicity (Schaller et al., 2011)
PubMed
Encephalopathy Found in trans with Q715X in a 5 y.o. pt. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Liver Diseases Compound heterozygote in cis with W748S Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ T914P in a 3 y.o. with hypotonia, encephalopathy, seizures, 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/ G848S in an 8 y.o. pt. with seizures, muscle weakness, hypotonia, ataxia, 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/ G848S in a 1 y.o. pt. with seizures and elevated transaminases, and increased signal basal ganglia Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
SANDO AND PEO Found in trans w/ W748S in a 54 y.o. with PEO, ptosis, ataxia, neuropathy, and SANDO 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 16 y.o. with seizures, dystonia, choria, neuropathy, and ptosis 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/ R597W in a 26 y.o. with encephalopathy, ataxis, ptosis, and neuropathy Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/K1050RfsX44 in a 4 y.o. w/ seizures, ataxia, hypotonia, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found as a homozygote in a 46 y.o. pt. w/ ptosis, neuropathy, muscle weakness, and ataxia 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 18 y.o. with ataxia, seizures, dystonia, and optic atrophy. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Ataxia Found as a homozygote in a 48 y.o. w/ hypotonia, ataxia muscle weakness, and headaches. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ c1443+1g in a 2 y.o. w/ hypotonia, encephalopathy, seizures, cardiomyopathy, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found as a homozygote in a 19 y.o. w/ ataxia, myoclonic seizures, optic atrophy, dysarthria, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO and seizures Found as a homozygote in a 40 y.o. w/ PEO, ataxia, seizures, and neuropathy Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ L1113P in a 1 y.o. with encephalopathy, seizures, and hepatic failure Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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Seizures Found in trans w/ T914P 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
Liver failure Found in trans w/ S305R in a 1 y.o. with liver failure Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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Seizures and liver failure Found in trans w/ R852C and G11D in a 8 mo. w/ seizures, liver failure, and lactic acidosis. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ F749S in a 6 y.o. w/ seizures Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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Hepatic failure Found in trans w/ S1095R in a 6 mo. w/ hypotonia, liver failure, abnormal muscle histology, 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/ T914P 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)
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Seizures and hepatic failure Found in trans w/ T914P 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)
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Seizures Found in trans w/ Q1024X in a 2y.o. w/seizures, hearing loss, and hemiparesis Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ W748S in a 29 y.o. symptoms not noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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PEO Found in trans w/ A143V in a 49 y.o. w/ PEO, encephalopathy, ataxia, seizures, neuropathy, hearing loss, and muscle weakness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ L304R in a 15 y.o. Symptoms not noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Liver failure Found in trans w/ R807C in a 1 y.o. w/ encephalopathy, liver failure, and lactic acidosis Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ T914P 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
Found in trans w/ F749S in an 8 mo. symptoms not noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures and hepatic failure Found in trans w/ H754Q in a 2 y.o. w/ seizures, hepatic failure, and cerebellar atrophy. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ C1188R in a 3 y.o. w/ seizures, hypotonia, and developmentally delayed Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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VPA induced liver failure Found in trans w/ G588D in a 2 y.o. w/ VPA induced liver failure Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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Found in trans w/ F88L in a 42 y.o. w/ no symptoms noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
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Alpers Found in trans w/G848S in a 3 y.o. w/seizures, developmentally delayed, and ataxia (Hunter et al., 2011)
PubMed
Alpers Found in trans w/G848S in a 11 mo. old w/seizures and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found as a homozygous mutation in a 10 y.o. w/seizures and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found in trans w/IVS14+1G>A in a 2 y.o. w/seizures, developmentally delayed, and ataxia (Hunter et al., 2011)
PubMed
Alpers Found in trans w/R852C in a 5 y.o. w/seizures, ataxia, and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found in trans w/S305R in a 3 y.o. w/seizures and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found in trans w/L966R in a 1 y.o. w/ seizures and developmentally delayed (Hunter et al., 2011)
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Alpers Found in trans w/E358A del364X in a 3 y.o. w/seizures, ataxia, and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found in trans w/E358A del364X in a 4 y.o. w/seizures, ataxia, and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found in trans w/L966R in a 1 y.o. w/ seizures and developmentally delayed (Hunter et al., 2011)
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Infantile hepatocerebral Found in trans w/R232H and H277L in a 2 mo. old w/hypotonia, motor paresis and developmentally delayed (Hunter et al., 2011)
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Infantile hepatocerebral Found in trans w/R232H and H277L in a 1.5 mo. old w/hypotonia and developmentally delayed (Hunter et al., 2011)
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Alpers Found in trans w/ R574W in 2 pediatric patients w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
PubMed
Alpers Found in trans w/ G848S in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
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Alpers Found in trans w/ G303R in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
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Alpers Found in trans w/L966R in a 17 mo. old male with seizures and encephalopathy (McCoy et al., 2011)
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Alpers Found in trans w/G848S in a 10 mo. old female with seizures and brain stem dysfunction. History revealed that a 24 y.o. cousin died from Alpers whom harbored a homozygous A467T variant. (McCoy et al., 2011)
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Alpers Found in trans w/R852C in a 21 mo. old female with blindness, anarthria, hypotonia, and epilepsy (McCoy et al., 2011)
PubMed
Alpers Found in trans w/C418R in a 43 mo. old female with ataxia and seizures (McCoy et al., 2011)
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Alpers to Leigh's encephalopathy Found in trans w/G848S in a 3.5 mo. old female with seizures and Alpers. Post mortem studies revealed Leigh's encephalopathy (Scalais et al., 2012)
PubMed
MNGIE-like Found as a homozygous mutation in a 46 y.o. male with PEO, ptosis, exercise intolerance, peripheral neuropathy, ataxia, and hearing loss (Tang et al., 2012)
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Torticollis and PEO Found in trans w/W748S in a 43 y.o. female with abnormal gait, ataxia, PEO, and head jerks. (Tuladhar et al., 2012)
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Parieto-occipital lobe epilepsy Found in trans w/ W748S in a 16 y.o. female with seizures, headaches, cerebellar ataxia, axonal neuropathy, visual impairment, and impaired cognitive function (Roshal et al., 2011)
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PEO Found in trans w/W748S in a 24 y.o. female with arPEO, cerebellar ataxia, and mtDNA deletions (Lax et al., 2012b)
PubMed
PEO Found in trans w/X1240Q in a 59 y.o. male with arPEO and sensory neuropathy (Lax et al., 2012b)
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PEO Found in trans w/X1240Q in a 59 y.o. male with arPEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
PEO Found in trans w/X1240Y in a 42 y.o. Female with arPEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
PEO Found as a homozygous mutation in a 36 y.o. male with arPEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
PEO Found in trans w/W748S in a 47 y.o. male with arPEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
PEO Found in trans w/X1240Y in a 42 y.o. female with PEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
PEO Found as a homozygous mutation in a 44 y.o. male with arPEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
PEO Found in trans w/W748S in a 48 y.o. male with PEO, ptosis, ataxia and sensory neuropathy (Lax et al., 2012a)
PubMed
Epilepsy Found in trans w/W748S in a 18 y.o. female with epilepsy, ataxia and sensory neuropathy (Lax et al., 2012a)
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Epilepsy Found in trans w/W748S in a 20 y.o.female with epilepsy, ataxia and sensory neuropathy (Lax et al., 2012a)
PubMed
Found in a Chinese population with Parkinsonism at an allelic frequency of 0.028 344 Chinese parkinson patients and 144 controls (Gui et al., 2012)
PubMed
PEO Found in compound with G380D in a 63 yo male with cerebellar ataxia, weakness of lower limbs and cognitive impairment Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Alpers Found in compound with T326fs61X in a 4 yo male with mtDNA depletion Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Alpers Found in compound withT914P 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 withW748S in a 17 yo female with axonal neuropathy, cerebellar ataxia, and hyperintensity of rolandic, Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
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Sensorimotor neuropathy Found as a heterozygous mutation in a 60 yo with ALS-like symptoms and mtDNA deletions. Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Encephalopathy Found as a homozygous mutation in 2 teens both had epilepsy, ataxia, and PEO (Tzoulis et al., 2013)
PubMed
Encephalopathy Found as a heterozygous mutation with W748S in 2 patients with PEO and ataxia. (Tzoulis et al., 2013)
PubMed
Encephalopathy Found as a heterozygous mutation with G848S in a patient with epilepsy (Tzoulis et al., 2013)
PubMed
SANDO Found in trans with T251I and P587L in a female in her 60's with a 5 year history of peripheral neuropathy, blurred vision, unstable gait, and sensory ataxia, dementia, and ophthalmoplegia. (Lovan et al., 2013)
PubMed
Epilepsy Found with S1104F in a 5 y.o. male. Patient also had myopathy and ataxia. In a study using patient fibroblasts, the cells were unable to up regulate mitochondrial biogenesis when exposed to Valproic acid. (Sitarz et al., 2014)
PubMed
MIRAS Found with W748S in a 39 y.o. male. Patient also had Ataxia, PEO, and neuropathy. In a study using patient fibroblasts, the cells were unable to up regulate mitochondrial biogenesis when exposed to Valproic acid. (Sitarz et al., 2014)
PubMed
Alpers Found in a 1 y.o female with c.3626_3629dupGATA, located 14nt before the end of exon 22 resulting in the in a premature stop codon and the skipping of most of exon 22. (de Camaret et al., 2014)
PubMed
SANDO Found w/W748S in a 37 y.o. female with ataxia, ptosis, seizures, and mtDNA deletions. (Hanisch et al., 2014)
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SANDO Found as a homozygous mutation in a 40 y.o. male with ataxia ptosis, and mtDNA deletions. (Hanisch et al., 2014)
PubMed
SANDO Found w/W748S in a 56 y.o. male with ataxia, ptosis, diabetes and mtDNA deletions. (Hanisch et al., 2014)
PubMed
SANDO Found w/W748S in a 45 y.o. male with ataxia, ptosis, diabetes and mtDNA deletions. (Hanisch et al., 2014)
PubMed
SANDO Found w/R627Q in a 50 y.o. male with ataxia, ptosis, diabetes and mtDNA deletions. (Hanisch et al., 2014)
PubMed
Myocerebrohepatopathy Found w/S1095R in a 4 y.o. boy with hypotonia, failure to thrive, and abnormalities in cranial nerve enhancement (Horst et al., 2014)
PubMed
PEO and encephalopathy Found as a homozygous mutation in a 15 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
PEO and encephalopathy Found as a homozygous mutation in a 8 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
PEO and encephalopathy Found as a homozygous mutation in a 16 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy Found w/W748S in a 14 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy Found w/W748S in a 13 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy Found w/G303R in a 9 mo. child w/epilepsy and death at 1.1 yrs. (Tzoulis et al., 2014)
PubMed
Encephalopathy Found w/G303R in a 2 y.o child w/epilepsy, ataxia, and death at 8.0 yrs. (Tzoulis et al., 2014)
PubMed
Encephalopathy Found w/G848S in a 6 mo. child w/epilepsy and death at 6 mo. (Tzoulis et al., 2014)
PubMed
PEO Found in compound w/ M919T in a 23 y.o. female patient w/ chronic intestinal pseudo-obstruction, PEO, and ataxia. In 5 out of 80 patients w/ chronic intestinal pseudo-obstruction (Amiot et al., 2009)
PubMed
Alpers Found as a homozygous mutation in a 3 y.o. female with seizures, cortical degeneration, hepatic microsteatosis,hippocampal sclerosis, and mtDNA depletion and multiple mtDNA mutations. Carrier frequency in European ancestry of 0.2% to 0.3% (Rajakulendran et al., 2016)
PubMed
MEMSA Found as a homozygous mutation in a 6 y.o. female with encephalitis, occipital lesions, COX-negative muscle fibers and mtDNA deletions and multiple mtDNA mutations. Carrier frequency in European ancestry of 0.2% to 0.3% (Rajakulendran et al., 2016)
PubMed
SANDO Found as a homozygous mutation in a 20 y.o. male with diplopia, axonal neuropathy, ragged red fibers, COX-negative muscle fibers, mtDNA deletions and multiple mtDNA mutations. Carrier frequency in European ancestry of 0.2% to 0.3% (Rajakulendran et al., 2016)
PubMed
MELAS-like Found as a homozygous mutation in a 24 y.o. female with axonal sensory motor neuropathy, ragged red fibers, COX-negative muscle fibers, mtDNA deletions and multiple mtDNA mutations. Carrier frequency in European ancestry of 0.2% to 0.3% (Rajakulendran et al., 2016)
PubMed
Migrains, siezures, and ataxia Found as a compound heterozygote w/ W748S in a 22 y.o. female with epileptic siezures, migrains and ataxia. Her brother presented with siezures at 19 yrs. w/ same mutations. (Vinjam et al., 2015)
PubMed
A study of 68 patients w/ homozygous A467T. Concluded that the clinical presentation was highly variabl, butthat siblings had similar clinical presentations. Attributed the variablitiy to genetic, enviromental, and epigentic factors. (Neeve et al., 2012)
PubMed
MSCA Found in trans withW748S in a 24 y.o.with encephalopathy, ataxia, and myopathy. In a study that suggests that dopaminergic neurons are vulnerable to the accumulation of somatic mtDNA damage, and defects of mtDNA replication and repair. (Tzoulis et al., 2016)
PubMed
MSCA Found in trans with W748ST in a 36 y.o.with encephalopathy, ataxia, and myopathy. In a study that suggests that dopaminergic neurons are vulnerable to the accumulation of somatic mtDNA damage, and defects of mtDNA replication and repair. (Tzoulis et al., 2016)
PubMed
MSCA Found in trans with W748ST in a 40 y.o.with encephalopathy, ataxia, and myopathy. In a study that suggests that dopaminergic neurons are vulnerable to the accumulation of somatic mtDNA damage, and defects of mtDNA replication and repair. (Tzoulis et al., 2016)
PubMed
MSCAE Found in trans with W748S in a16 y.o.with encephalopathy, epilepsy, myopathy, and ataxia. In a study that suggests that dopaminergic neurons are vulnerable to the accumulation of somatic mtDNA damage, and defects of mtDNA replication and repair. (Tzoulis et al., 2016)
PubMed
MSCAE Found as a homozygous mutation in a 15 y.o.with encephalopathy, epilepsy, SLE, and ataxia. In a study that suggests that dopaminergic neurons are vulnerable to the accumulation of somatic mtDNA damage, and defects of mtDNA replication and repair. (Tzoulis et al., 2016)
PubMed
Alpers Found as a homozygous mutation in a 3 y.o. girl who had delayed development and epilepsy. (Rajakulendran et al., 2016)
PubMed
MEMSA Found as a homozygous mutation in a 6 y.o. female with sensory axonal peripheral neuropathy, vision impairment,myoclonus, and COX negative fibers. (Rajakulendran et al., 2016)
PubMed
SANDO Found as a homozygous mutation in a 20 y.o. male with diplopia,bilateral ptosis, and sensory peripheral neuropathy. (Rajakulendran et al., 2016)
PubMed
"MELAS-like" Found as a homozygous mutation in a 24 y.o. female with seizure, .deafness, axonal neuropathy, and myopathic weakness. (Rajakulendran et al., 2016)
PubMed
SANDO Found in trans w/W748S with PEO, deafness, migraines, and depression. (Bereau et al., 2016)
PubMed
SCAE Found a homozygous mutation with ataxia, seizures, polyneuropathy, and migraine. (Bereau et al., 2016)
PubMed
SANDO Found in trans w/R597W in a 20 y.o. with ataxia, polyneuropathy, ophthalmoparesis, and dysarthria, (Bereau et al., 2016)
PubMed
PEO Found in trans with T251I and W748S in a 30 y.o. with muscle weaknes and PEO. (Bereau et al., 2016)
PubMed
SANDO Found in trans with R1138C in a 35 y.o. with PEO, ataxia, sensory neuropathy, muscle weakness, and Chorea. (Bereau et al., 2016)
PubMed
SCAE Found in trans with W748S and E1143G in a 36 y.o. with PEO, ataxia, sensory neuropathy, seizures, and migraines. (Bereau et al., 2016)
PubMed
SANDO Found in trans with L559P in a 50 y.o. with PEO, ataxia, sensory neuropathy, dysarthria, dysphagia, and muscle weakness. (Bereau et al., 2016)
PubMed
PEO Found in trans w/T251 and P587L in a 56 y.o. with PEO, muscle weakness, and dysphagia. (Bereau et al., 2016)
PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) Found in trans w/T251I and P587L in a 58 y.o. with ataxia, sensory neuropathy, and dysphagia. (Bereau et al., 2016)
PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) Found in trans w/R275Q in a 62 y.o. with ataxia, sensory neuropathy and PEO. (Bereau et al., 2016)
PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) Found in trans w/T251I and P587L in a 66 y.o. with ataxia, sensory neuropathy, and PEO. (Bereau et al., 2016)
PubMed
SANDO Found in trans w/G848S with ataxia, sensory neuropathy, dysarthria, and PEO. (Bereau et al., 2016)
PubMed
Gait disturbance Found w/ W748S in a 26 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found w/ W748S in a 36 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found as a heterozygote in a 27 y.o. male with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found as a heterozygote in a 12 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found w/W748S in a 49 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Hypoacusis Found as a heterozygote in a 20 y.o. male with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found w/W748S in a 41 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
SANDO Found in trans w/W748S in a 50 y.o female with multisystem degeneration and cerebellar ataxia. Patient was symptomatic in her 20's which progressed to SANDO. Patient died of sudden cardiac arrest at the age of 50. (Kirschenbaum et al., 2017)
PubMed
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