POLG Pathogenicity Prediction Server

Patient data are sorted by mutation combination frequency.

Reference:

Luoma et al, 2007;

[PubMed]

Description:

Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Hypertension

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: 57, Age of Patient: 67, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Cataract, balance disturbances, retinal rupture, tinnitus, unilateral deafness

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Coronary heart disease, delayed puberty, sensorineural hearing loss

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Delayed puberty, hypogonadism, transient vertigo, visual field defect

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Diabetes mellitus, hypothyreosis, cerebral infarction, hypertension, hypercholesterolemia, learning difficulties

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Hypothyreosis, gestational diabetes mellitus

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Mental retardation

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Premature puberty, short stature, fertility problems, gestational diabetes mellitus

Mutations:

SNPs:

R722H

Age group:

juvenile

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Tinnitus, benign cardiac arrhythmias

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Transient hypertension, benign cardiac arrhythmias, fertility problems

Mutations:

SNPs:

R722H

Age group:

adult

Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Mild dementia, sensorineural hearing impairment, diabetes mellitus, osteoarthritis, hypertension, coronary heart disease, areflexia due to diabetic neuropathy. She had a mild left motor hemiparesis at the age of 74 years due to a lacunar brain infarct. Patient A3. Elder sister of patient A1.

Mutations:

SNPs:

R722H, R722H

Age group:

adult

Age of Onset: 74, Age of Patient: 86, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Moderate dementia, sensorineural hearing impairment, occasional headaches, bilateral cataract, chronic gastritis. Occasional headaches started at 30 years old. Patient A2. Younger sister of patient A1.

Mutations:

SNPs:

R722H, R722H

Age group:

adult

Age of Onset: 30, Age of Patient: 78, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

Severe dementia, sensorineural hearing impairment, diabetes mellitus, PEO, dysphagia, neuropathic pain in the legs, multiple mtDNA deletions in muscle. Clear age of onset not reported, hearing aid at 72 years. Patient A1.

Mutations:

SNPs:

R722H, R722H

Age group:

adult

Age of Onset: 72, Age of Patient: 83, Age of Death: n/a

Reference:

Komulainen et al, 2010;

[PubMed]

Description:

mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed.

Mutations:

W748S

SNPs:

E1143G, R722H

Age group:

childhood

Age of Onset: 11, Age of Patient: 22, Age of Death: n/a

Reference:

Bolszak et al, 2009;

[PubMed]

Description:

Onset at 4 months with generalized tonic-clonic seizure, evolved to status epilepticus, treated with valproate, Progressive encephalopathy, and psychomotor development deficient by age 2, mentally retarded, ataxic and hyperkinetic. At the last follow-up visit at age 17 years, he was severely retarded, autistic, and ataxic. During 12 months of valproate treatment serum alanine aminotransferase (ALAT) increased from 29 to 71 U/L (normal < 40 U/L), and after discontinuation of the medication, ALAT values varied between 5 and 12 U/L.

Mutations:

G517V

SNPs:

R722H

Age group:

infantile

Age of Onset: 0.33, Age of Patient: 17, Age of Death: n/a

Reference:

YlÃ¶nen et al, 2013;

[PubMed]

Description:

late onset parkinsons. Tremor. Hyperreflexia.