POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation D890A.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

527

D890A1

The patient had bilateral cataracts removed in early childhood. He developed chronic diarrhea and weight loss in his 20s, which were associated with a rash that on biopsy showed features of dermatitis herpetiformis. At the age of 35 years, the patient presented with weakness of upper extremities and bilateral ptosis. A muscle biopsy revealed ragged-red fibers and cytochrome c oxidase (COX) negative fibers. impaired upgaze. cachexia. chronic myopathy and severe sensory neuropathy. progressive gastrointestinal dysmotility. mtDNA deletions. hypogonadism, hypothyroidism, and osteopenia.

-	ragged red fibers

myopathy

ptosis

-	GI dysmotility

diarrhea

-	hypothyroidism

adult

n/a

Prasun and Koeberl, 2014;

[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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