A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies.
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.
Nakamura
Akinobu
A
Department of Medicine II, Hokkaido University Graduate School of Medicine, N-15, W-7, Kita-ku, Sapporo 060-8638, Japan.
Shimizu
Chikara
C
Nagai
So
S
Taniguchi
Satoshi
S
Umetsu
Masaaki
M
Atsumi
Toshiya
T
Wada
Norio
N
Yoshioka
Narihito
N
Ono
Yuri
Y
Tanizawa
Yukio
Y
Koike
Takao
T
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
D001323:Autoantibodies; C096322:ICA512 autoantibody; D008565:Membrane Proteins; C114987:wolframin protein; D005968:Glutamate Decarboxylase