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A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies

A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies,10.1016/j.diabres.2005.12.007,Diabetes R

A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies   (Citations: 4)
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Wolfram syndrome is a rare, autosomal recessive disorder characterized by early-onset diabetes mellitus, optic atrophy and neurological and endocrinological abnormalities. A 47-year-old Japanese man with frequent severe hypoglycemic episodes was diagnosed as Wolfram syndrome based on clinical features and laboratory data. He had positive glutamic acid decarboxylase (GAD) and insulinoma-associated antigen-2 (IA-2) antibodies, both uncommon in this syndrome. Genetic analysis revealed that WFS1 gene of the patient has a homozygous 5 base pairs (AAGGC) insertion at position 1279 in exon 8, causing a frameshift at codon 371 leading to premature termination at codon 443.
Journal: Diabetes Research and Clinical Practice - DIABETES RES CLIN PRACT , vol. 73, no. 2, pp. 215-217, 2006
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