Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

摘要

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy, additional symptoms include diabetes insipidus, sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness and other endocrine disturbances (1).