title: A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies.
abstract: 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.
authors.affiliation: Department of Medicine II, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo 060-8638, Japan.
authors.forename: Akinobu
authors.initials: A
authors.lastname: Nakamura
authors.forename: Chikara
authors.initials: C
authors.lastname: Shimizu
authors.forename: So
authors.initials: S
authors.lastname: Nagai
authors.forename: Satoshi
authors.initials: S
authors.lastname: Taniguchi
authors.forename: Masaaki
authors.initials: M
authors.lastname: Umetsu
authors.forename: Toshiya
authors.initials: T
authors.lastname: Atsumi
authors.forename: Norio
authors.initials: N
authors.lastname: Wada
authors.forename: Narihito
authors.initials: N
authors.lastname: Yoshioka
authors.forename: Yuri
authors.initials: Y
authors.lastname: Ono
authors.forename: Yukio
authors.initials: Y
authors.lastname: Tanizawa
authors.forename: Takao
authors.initials: T
authors.lastname: Koike
mesh_terms: D001323:Autoantibodies / Q000097:blood*; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D005968:Glutamate Decarboxylase / Q000276:immunology*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D001323:Autoantibodies; C096322:ICA512 autoantibody; D008565:Membrane Proteins; C114987:wolframin protein; D005968:Glutamate Decarboxylase