A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome

作者：Maltoni Giulio^*; Minardi Raffaella; Cristalli Carlotta Pia; Nardi Laura; D'Alberton Franco; Mantovani Vilma; Zucchini Stefano

来源：Diabetes Research and Clinical Practice, 2016, 121: 59-61.

DOI：10.1016/j.diabres.2016.08.020

• Wolfram syndrome
• Monogenic diabetes
• Optic atrophy

WS diagnosis is often delayed since misdiagnosed as autoimmune diabetes. The rarity of the condition and the absence of other diseases at diabetes diagnosis might make extremely challenging the recognition of WS. However the novel compound heterozygosity for the here reported mutations, seems to confer a mild phenotype among the spectrum of WS manifestations.