POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and S1095R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

S1095R3

A467T2

Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present.

-	abnormal muscle histology

ptosis

-	liver failure

-	failure to thrive

hypotonic

-	developmental delay

vomiting

GI reflux

-	delayed gastric emptying

-	respiratory deficiency

infantile

0.333

n/a

0.583

Tang et al, 2011;

[view data]

^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.

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Reference:

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