A case of a mild Wolfram Syndrome with concomitant ATP7B mutation.

ABSTRACT:

Background

Wolfram Syndrome 1 (WS1) has been characterized on the basis of mutation in the WFS1 gene encoding a calcium storage wolframin endoplasmatic reticulum transmembrane glycoprotein.

Patients and methods

We observed a WS 10-years old female subject, with Type 1 diabetes-mellitus (DM), that had compound heterozygous WSF1 mutations but without other symptoms generally observed in WS subjects, such as optic atrophy or neurodegeneration.

Results

Decreased copper, ceruloplasmin, and transferrin levels, pointing to a copper deficiency, were associated with a new c.18703A>G mutation in the ATP7B gene, while lower calcium levels were associated with WSF1 mutations. An omega-3 fatty acids therapy was administrated to the subject in the attempt to ameliorate diabetes sym

SUBMITTER: Squitti R 

PROVIDER: S-EPMC8048209 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature