A case of a mild Wolfram Syndrome with concomitant ATP7B mutation

CellR4 2019; 7: e2735
DOI: 10.32113/cellr4_20198_2735

  Topic: Diabetes     Category:

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.1870-3A>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 symptoms, restored copper deficiency, and normal calcium levels.

Conclusions: This specific case report provides new insights into the potential interplay of ATP7B mutation in shaping a milder WS clinical picture.

To cite this article

A case of a mild Wolfram Syndrome with concomitant ATP7B mutation

CellR4 2019; 7: e2735
DOI: 10.32113/cellr4_20198_2735

Publication History

Submission date: 24 Jul 2019

Revised on: 05 Aug 2019

Accepted on: 09 Aug 2019

Published online: 28 Aug 2019