ArticleCellR4-- repair, replacement, regeneration, & reprogramming2019
A case of a mild Wolfram Syndrome with concomitant
Article in CellR4-- repair, replacement, regeneration, & reprogramming, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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8 authors at 6 institutions in 2 countries.
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Abstract
backgroundWolfram 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
methodsWe 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.
resultsDecreased 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 symptoms, restored copper deficiency, and normal calcium levels.
conclusionsThis specific case report provides new insights into the potential interplay of ATP7B mutation in shaping a milder WS clinical picture.
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