Article
Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.
Human molecular genetics - 26 Apr 2021
Panfili Eleonora, Mondanelli Giada, Orabona Ciriana, Belladonna Maria L, Gargaro Marco, Fallarino Francesca, Orecchini Elena, Prontera Paolo, Proietti Elisa, Frontino Giulio, Tirelli Eva, Iacono Alberta, Vacca Carmine, Puccetti Paolo, Grohmann Ursula, Esposito Susanna, Pallotta Maria T
Abstract excerpt
Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus and neurological signs. We identified two novel WFS1 mutations in a patient with WS, namely, c.316-1G > A (in intron...
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