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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.

To search for multiple exons, hold <Ctrl> while selecting multiple options.


Amino Acid Substitution: W748S
cDNA Position: 2243 g→c (exon 13)
Disease Genetics Frequency Reference
Ataxia Found in compound w/E1143G w/ataxia, dysarthria, and cognitive impairment. Also found as a homozygous mutation. (Van Goethem et al., 2004) 
PubMed
Alpers Found in compound w/ Y1210fs1216X and E1143G Ferrari et al., 2005 reported 1 in 9 (11.11%) children with a combination of progressive neurological and hepatic failure, with a heterozygous frequency of 1% of Italian controls. (Ferrari et al., 2005)
PubMed
Hepatocerebral Syndrome Found in 4 children in cis w/E1143G and in trans w/G848S. (Davidzon et al., 2005)
PubMed
Ataxia Found as a homozygous mutation w/ E1143G Carrier frequency in the general Finnish population of 1:125 from 500 control chromosomes (Hakonen et al., 2005)
PubMed
Alpers Found in trans w/E1143G and in cis w/G848S in a 13 mo. old male (Nguyen et al., 2005)
PubMed
Ataxia Syndrome Found in trans w/Q497H in patients w/ progressive ataxia and epilepsy 1 in 97 found in healthy controls and 1 in 99 found mtDNA disease patients (Winterthun et al., 2005) 
PubMed
PEO Found in trans w/A467T and also in trans w/ Q308H Not found in 250 control individuals (Horvath et al., 2006)
PubMed
SCAE Found in trans w/L304R in a 20 y.o. female w/ spinocerebellar ataxia epilepsy syndrome and mtDNA deletions Not found in 300 healthy French control chromosomes (Naimi et al., 2006)
PubMed
PEO, ataxia, and epilepsy Found as a homozygous mutation in 13 pts. ranging in age from 2 to 19 yrs. One heterozygous 55 y.o. pt. with epilepsy. Also found in trans w/A467T in 7 pts. Ranging in age from 14 to 36 yrs. All w/ wide spectrum of mitochondrial disease. Studied in 26 mitochondrial disease patients (Tzoulis et al., 2006)
PubMed
Ataxia Neuropathy A biochemical study of W748S pol gamma which exhibited low DNA polymerase activity, low processivity and a severe DNA-binding defect, and is commonly found in cis w/E1143G (Chan et al., 2006) 
PubMed
Alpers Found in cis w/K561M and found in cis with E1143G. Both patients had mtDNA depletion 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 W748S with E1143G. (Sarzi, et al. 2007)
PubMed
Alpers, Ataxia Neuropathy, and arPEO+ Found in trans w/ G848S, and in cis w/ Q479H-E1143G. Also found in trans w/ A467T. arPEO+ as a compound w/ E1143G (Wong et al., 2008)
PubMed
Alpers Homozygous, juvenile onset (Uusimaa et al., 2008)
PubMed
Alpers Found in trans w/ [R852C and G11D], and found in 2 additional pts. in trans w/T914P. Found homozygous in one pt. Found in trans w/ G848S. Found in trans w/[P587L and P589L]. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
PEO and Alpers Found in trans w/ A467T. In a 2nd pt., found in cis w/ E1143G and in trans w/ G11D and R852C. (Stewart et al., 2009)
PubMed
Alpers In cis w/E1143G and in trans w/ G484S (Taanman et al., 2008)
PubMed
mtDNA depletion In cis w/E1143G and in trans w/ H1110Y and Q1236H (Taanman et al., 2008)
PubMed
Alpers In cis w/ Q497H and E1143G, and in trans w/ G848S Found in one child w/ a normal brain MRI (Brunetti-Pierri et al., 2008)
PubMed
Alpers Found in 2 infants in trans w/ Y1210X (Spinazzola et al., 2009)
PubMed
Alpers Found in trans w/ L244P (Spinazzola et al., 2009)
PubMed
Alpers Found in trans w/ D930N (Spinazzola et al., 2009)
PubMed
Parkinsonism Homozygous mutation w/ PEO, ataxia, peripheral neuropathy, and hearing loss (Remes et al., 2009)
PubMed
Leigh Syndrome Found in trans with G11D and R852C (Naess, et al., 2009)
PubMed
PEO Found in trans with G737R, and in a 2nd pt. in cis with P587L and in trans with T251I. (Tzoulis, et al., 2009)
PubMed
PEO, ptosis, polyneuropathy, ataxia, and dysartria Found in trans w/A467T and in compound w/ E1143G <0.5% in 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/ A467T. <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Found with A467T in 4 middle aged patients, 2 of which are sisters (Schulte et al., 2009)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Homozygous in a 39 yr. old patient (Schulte et al., 2009)
PubMed
Hepatocerebral - Alpers symptoms Found w/P1073L. Psychomotor delay, seizures, liver delay, and gastrointestinal dysmotility (Kurt et al., 2010)
PubMed
SANDO Found in trans w/ P1073L. Psychomotor delay, seizures, liver delay, and gastrointestinal dysmotility (Posada et al., 2010)
PubMed
PEO, mtDNA deletions and neurological phenotypes Found in trans with A467T and in cis with E1143G. Sensory ataxia, dysarthria, and opthalmoplegia. 1:135 carrier frequency in a Finnish population (Komulainen et al., 2010)
PubMed
Alpers Homozygous in 3 siblings with mtDNA deletions, hearing loss, diabetes, dementia, dysphagia, and limb myopathy. Also found in trans w/ R722H in two siblings w/ Ptosis, epilepsy, mental retardation 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples (Isohanni et al., 2011)
PubMed
Alpers Found in cis with E1143G and in trans with R807C in a 1 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 cis with E1143G and Q497H, and in trans with A467T 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 cis with E1143G and in trans with G848S in a 11 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
Alpers Found in cis with 1143G and in trans with T914P 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
Ataxia and cerebellar atrophy Found as a homozygote in a 30 y.o. pt. with peripheral neuropathy, ataxia, and fatigability 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/ A467T 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/ A467T 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
PEO Found in a 25 y.o. pt. that is homozygous for the W748S mutation and S28C as a heterozygote with PEO, ataxia, ptosis, and hearing loss Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ D892fsX39 in a 9 mo. old pt. w/ a deceased sibling 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 5 y.o. pt. w/myclonic seizures, liver failure, and hypotonia Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Alpers Found in trans w/ Q449X in a 21 y.o. with 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/ G848S in a 7 y.o. w/ seizures and cortical blindness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ G848S in a 3 y.o. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ G8484S in a 6 y.o. pt. with GI issues and irregular occipital lobe. Sibling died from VPA induced organ failure. 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 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
PEO Found in trans w/ R953C in a 51 y.o. w/ peripheral neuropathy, ptosis, hypotonia, ataxia, and 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/ T914P 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/ T914P 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
Found in trans w/ A467T 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)
PubMed
Seizures and liver failure Found in trans w/ M797del in a 1 y.o. with seizures and hepatic failure 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/ G888D in a 2 y.o. w/ seizures, hepatic failure, ketosis and abnormal MRI Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Alpers Found in trans w/ R852H in a 3 y.o. w/ Alpers Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
MSCAE Found in trans w/ T914P in a 15 y.o. female with mitochondrial spinocerebellar ataxia and epilepsy. (Hinnell et al., 2012)
PubMed
Alpers Found in trans w/G848S in a 6 yr. 4 mo. with microvesicular fatty changes of the liver, myclonic seizures, and ataxia (Hunter et al., 2011)
PubMed
Alpers found in trans w/G8484S in a 6 yr. 9 mo. with seizures, developmentally delayed, and ataxia. (Hunter et al., 2011)
PubMed
Alpers Found w/ E1143G and R232H in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
PubMed
Alpers Found w/M1163R and E1143G in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
PubMed
MNGIE-like Found in a 25 y.o. female as a homozygous mutation. Patient had migraines, ptosis, PEO, exercise intolerance, peripheral neuropathy, and ataxia. (Tang et al., 2012)
PubMed
MNGIE-like Found in compound with R953C in a 50y.o. male with cognitive impairment, muscle weakness, diarrhea, vomiting, ptosis, and opthalmoparesis. (Tang et al., 2012)
PubMed
Alpers and PEO Found in trans with R852C in a pediatric female patient with hypotonia, developmental delay, ataxia, and seizures (Vasta et al., 2012)
PubMed
MIRAS Mother and son were homozygous for E1143G in cis with E1143, and the unaffected father was heterozygous for W748S in cis with E1143G. Both mother and son had decreased mtDNA and spinocerebellar ataxias with presentation in late 30's and early 40's. Frequencies in Europe for W748S+E1143G or A467T range from 0.6% in Belgium, 0.8% in Finland, and 2% in Finland (Palin et al., 2012)
PubMed
Torticollis and PEO Found in trans w/A467T in a 43 y.o. female with abnormal gait, ataxia, PEO, and head jerks. (Tuladhar et al., 2012)
PubMed
Parieto-occipital lobe epilepsy Found in trans w/ A467T in a 16 y.o. female with seizures, headaches, cerebellar ataxia, axonal neuropathy, visual impairment, and impaired cognitive function (Roshal et al., 2011)
PubMed
PEO Found in trans w/A467T in a 24 y.o. female with arPEO, cerebellar ataxia, and mtDNA deletions (Lax et al., 2012b)
PubMed
PEO Found in trans w/ R1096C in a 49 y.o. male with PEO, ptosis, epilepsy and peripheral neuropathy (Lax et al., 2012a)
PubMed
PEO Found in trans w/ A467T in a 47 y.o. male with arPEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
PEO Found in trans w/A467T in a 48 y.o. male with PEO, ptosis, ataxia and sensory neuropathy (Lax et al., 2012a)
PubMed
Epilepsy Found in trans w/A467T in a 18 y.o.female male with epilepsy, ataxia and sensory neuropathy (Lax et al., 2012a)
PubMed
Epilepsy Found in trans w/A467T in a 20 y.o. female male with epilepsy, ataxia and sensory neuropathy (Lax et al., 2012a)
PubMed
Found in a Chinese population with Parkinsonism at an allelic frequency of 0.391 344 Chinese parkinson patients and 144 controls (Gui et al., 2012)
PubMed
Epilepsy Found in compound with R627W in teenage sisters with epilepsy, encephalitis with mitochondrial abnormalities affecting neurons (Nolte et al., 2013)
PubMed
PEO Found in compound with L304R in a 27 yo female with sensory and cerebellar ataxia, axonal sensory neuropathy Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Epilepsy Found in compound with A467T 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)
PubMed
Epilepsy Found in compound with T914P 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
SANDO Found as a homzygous mutation in a 37 yo male with SANDO, parkinsonism, and mtDNA deletions Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Epilepsy Found as a heterozygous mutation in a 2 yo female with epilepsy, delayed psychomotor development, and mtDNA deletions and depletion. Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Encephalopathy Found as a heterozygous mutation with A467T in 2 patients with PEO and ataxia. (Tzoulis et al., 2013)
PubMed
Encephalopathy Found as a homozygous mutation in 7 patients with ataxia, epilepsy, and PEO (Tzoulis et al., 2013)
PubMed
Epilepsy Found with deletion of a" t" at c.3600 in a 3 y.o. female. Patient also had myopathy. 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 A467T 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
MIRAS Found as a homozygous mutation in a 36 y.o. male with Ataxia, neuropathy, and PEO. . 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 w/E1143G in a 16 mo. boy with epilepsy, mtDNA depletion, and noted defects of the respiratory chain complexes I,II, and IV. (de Camaret et al., 2014)
PubMed
Charcot-Marie Tooth Disease Found w/Q497H in a Norweign family with Charcot-Marie Tooth Disease. Total of 245 affected persons from 116 Charcot-Marie tooth disease families in Akershus County Norway. (Hoyer et al., 2014)
PubMed
SANDO Found w/A467T in a 37 y.o. female with ataxia, ptosis, seizures, and mtDNA deletions. (Hanisch et al., 2014)
PubMed
SANDO Found w/A467T in a 56 y.o. male with ataxia, ptosis, diabetes, and mtDNA deletions. (Hanisch et al., 2014)
PubMed
SANDO Found w/A467T in a 56 y.o. male with ataxia, ptosis, diabetes and mtDNA deletions. (Hanisch et al., 2014)
PubMed
SANDO Found w/A467T in a 45 y.o. male with ataxia, ptosis, diabetes and mtDNA deletions. (Hanisch et al., 2014)
PubMed
Encephalopathy and PEO Found as a homozygous mutation in a 6 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy Found as a homozygous mutation in a 15 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy and PEO Found as a homozygous mutation in a 17 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy and PEO Found as a homozygous mutation in a 12 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy Found as a homozygous mutation in a 2 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy and PEO Found as a homozygous mutation in a 16 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Encephalopathy and PEO Found as a homozygous mutation in a 15 y.o. w/epilepsy, ataxia, and neuropathy (Tzoulis et al., 2014)
PubMed
Alpers Found as a heterozygous mutation with the 2nd POLG1 allel completely deleted. The patient was a 2 y.o. Swedish male with impaired motor skills, epileptic seizure, and died from VPA induced liver failure. (Naess, et al., 2011)
PubMed
PEO Found in compound w/A143V and E1143G in a 40 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
Hypertrophic olivary degeneration Found as a homozygous mutattion in a 30 y.o. male with hepatitis C and hearing loss, slurred speech, gait ataxia (Arkadir et al., 2015)
PubMed
Progressive ataxia and Palatal tremor (PAPT) Found in trans w/I1185N in a 52 y.o. male w/ kinetic and static ataxia, dysarthria, palatal trmor, and vertical nystagmus. (Nicastro et al., 2016)
PubMed
Migrains, siezures, and ataxia Found as a compound heterozygote w/ A467T 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
fragile X tremor/ataxia syndrome (FXTAS) Found as a homozygous mutation in a 60 y.o. Swedish male with balance and gait difficulties, slurred speech, diplopia and cognitive decline. Negative for Fragile X Syndrome. (Paucar et al., 2016)
PubMed
Ataxia neuropathy Found as a homozygote in a 29 y.o. women with PEO, general areflexia, and abnormal leg pallesthesia. MRI showed lesions in the thalamus, cerebellum, and inferior olivary nucleus. ( Henao et al., 2016)
PubMed
PEO Found in trans with T251I and P587L in a 50 y.o.with PEO 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 as a homozygote in a 16 y.o.with encephalopathy, Epilepsy, SLE, 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 as a homozygote in a 12 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 as a homozygote in a 17 y.o.with encephalopathy, Epilepsy, SLE, 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 A467T 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 A467T 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 A467T 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 A467T in a16 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
SANDO Found in trans w/A467T with PEO, deafness, migraines, and depression. (Bereau et al., 2016)
PubMed
SCAE Found in trans w/E1143G on both allels in a 22 y.o. with cerebellar ataxia, seizures, deafness, migraines, and dystonia (Bereau et al., 2016)
PubMed
SCAE Found in trans w/L304R with PEO, cognitive impairment, seizures, ataxia, polyneuropathy, dysphagia, and dysarthria. (Bereau et al., 2016)
PubMed
SCAE Found in trans with A467T and in cis E1143G in a 36 y.o. with PEO, ataxia, sensory neuropathy, seizures, and migraines. (Bereau et al., 2016)
PubMed
SANDO Found as a homozygous mutation in a 37 y.o. with Parkinsonism, sensory neuropathy, ataxia, and PEO. (Bereau et al., 2016)
PubMed
SANDO Found in cis w/E1143G and in trans w/ R627Q and Q1236H in a 38 y.o. with sensory neuropathy, ataxia, PEO, and cognitive impairment. (Bereau et al., 2016)
PubMed
SANDO Found in trans w/R627Q and Q1236H and in cis w/E1143G in a 47 y.o. with sensory neuropathy, ataxia, Ophthalmoparesis and muscle weakness. (Bereau et al., 2016)
PubMed
SANDO Found as a homozygous mutation in a 50 y.o. with sensory neuropathy, ataxia, cognitive impairment and PEO. (Bereau et al., 2016)
PubMed
Gait disturbance Found w/ A467T in a 26 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found w/ A467T 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 22 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found w/A467T in a 49 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found as a heterozygous mutation in a 29 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found w/A467T in a 41 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
PEO Found in trans with A847T in a 49 y.o. male with muscle weakness and sensory neuropathy. Patient has mtDNA deletions, COX negative muscle fibers, and ragged red fibers. (Pozzo et al., 2017)
PubMed
Cerebellar ataxia and sensory neuropathy Found as a homozygous mutation in a 40 y.o. male with dysphagia, ataxia, neuropathy, and loss of vibration sense dysarthria (Pozzo et al., 2017)
PubMed
Ataxia Found as a homozygous mutation in a 60 y.o. Swedish male with balance and gait difficulties, slurred speech, diplopia and cognitive decline. Negative for Fragile X Syndrome. (Paucar et al., 2016)
PubMed
Ataxia and palatal tremor Found in trans with I1185N in a 52 y.o. male with diabetes, hypertension, and progressive gait and balance difficulties (Nicastro et al., 2016)
PubMed
SANDO Found in trans w/A467T 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
Cerebellar ataxia Homozygous W748S found in two sisters with cerebellar ataxia plus elevated cerebrospinal free sialic acid (CAFSA). (Del Mar Amador et al., 2018)
PubMed
SANDO Found in trans with R627Q. Exhibit cerebellar and proprioceptive ataxia, dysarthria, cognitive impairment and distal sensorimotor axonal neuropathy (Gebus et al., 2018)
PubMed
Alpers Homozygous W748S found in one baby (Hayhurst et al., 2019)
PubMed
MDS Found as heterozygous in trans with G848S with peripheral neuropathy, transient hepatic dysfunction, and progressive encephalopathy with ataxia and psychiatric symptoms (Blazquez-Bermejo et al., 2019)
PubMed
late onset sensory axonal neuropathy Found as homozygous in a 54?year?old woman with late onset sensory axonal neuropathy resulted from uniparental disomy of the long arm of chromosome 15. (Phillips et al., 2019)
PubMed
Hepatocerebral MDS Found in trans with R807C or Y1210X or W748S or R869X or N1053fsX6. All infants died of liver faiture. Pronicki et al., 2018)
PubMed
MDS Found in a large cohort study as homozygous or heterzygous in trans with A467T. Homozygous variant 13% in early onset, 51% Juvenile/adult onset, 5% late onset. Heterzygous variants in trans with A467T 6% in early onset, 23% Juvenile/adult onset, 5% late onset. (Hikmat et al., 2020)
PubMed
Epilepsy Found in a cross-sectional study of 22676 genetic variants associated with epilepsy (SoRelle et al., 2020)
PubMed
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