1. A case of a mild Wolfram Syndrome with concomitant ATP7B mutation
- Author
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R. Squitti, G. Cerchiaro, I. Giovannoni, P. Francalanci, M. Siotto, P. Maffei, C. Ricordi, and M. Rongioletti
- Subjects
diabetes ,wolfram syndrome ,atp7b ,copper ,Science - 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.
- Published
- 2019
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