POLG Pathogenicity Prediction Server
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5 patient data entries in database for clusters A467T and 2 in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
113L605R2
A467T2
Alpers, seizures, myoclonus, liver failure, elevated serum lactate, COX deficient fibers present in muscle and liver, mtDNA depletion in liver.
-myoclonic seizures
-liver failure
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
1n/an/aStewart et al, 2009;

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114G588D2
A467T2
VPA induced liver failure. 50% mtDNA copy number in muscle.
-liver failure
infantile
n/a2n/aTang et al, 2011;

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118H754Q2
A467T2
Developmental delay, intractable seizure/refractory, hepatic failure, cerebellar atrophy, liver failure. 87% mtDNA copy number in blood.
-intractable seizure
-cerebellar atrophy
-liver failure
-developmental delay
infantile
n/a2n/aTang et al, 2011;

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540R574W2
A467T2
The girl was healthy and developed normally until one year of age when, during a mild respiratory infection, she had repeated multifocal partial seizures with clonic jerking and unconsciousness. The episode was later followed by the development of muscular hypotonia and of myoclonus. Mild psychomotor regression, ataxia, and slightly elevated serum transaminases were noticed. At 3 years of age, a mild infection provoked a prolonged status epilepticus, which lasted 3 weeks and included stroke-like features and rightsided hemiparesis. This was followed by a progressive deterioration of cognitive and motor functions and the development of ptosis and external ophthalmoplegia. Alpers. Febrile infections provoked repetitive status epilepticus with seizures in the form of migrating epilepsia partialis continua. mtDNA Deletions.
-status epilepticus
-myoclonic seizures
-hemiparesis
-epilepsia partialis
-movement disorder (ataxia)
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
11.54.333Kollberg et al, 2006;

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541R574W2
A467T2
mtDNA Deletions. She was healthy until 7 months of age when she, in association with pyelonephritis, had onset of myoclonic seizures and weakness of the left arm and leg. leftsided myoclonic seizures progressing to status epilepticus in the form of migrating EPC and unconsciousness. pneumonia and colitis.
-status epilepticus
-myoclonic seizures
infantile
0.58311.166Kollberg et al, 2006;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 5
Avg age of onset in displayed cases: 1.3
Std dev in onset in displayed cases: 0.6

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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