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

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Title: A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies
Authors: Nakamura, Akinobu Browse this author →KAKEN DB
Shimizu, Chikara Browse this author →KAKEN DB
Nagai, So Browse this author →KAKEN DB
Taniguchi, Satoshi Browse this author
Umetsu, Masaaki Browse this author
Atsumi, Toshiya Browse this author →KAKEN DB
Wada, Norio Browse this author
Yoshioka, Narihito Browse this author →KAKEN DB
Ono, Yuri Browse this author
Tanizawa, Yukio Browse this author
Koike, Takao Browse this author →KAKEN DB
Keywords: Wolfram syndrome
GAD antibody
IA-2 antibody
WFS1 gene
Issue Date: Aug-2006
Publisher: Elsevier Ireland Ltd
Journal Title: Diabetes Research and Clinical Practice
Volume: 73
Issue: 2
Start Page: 215
End Page: 217
Publisher DOI: 10.1016/j.diabres.2005.12.007
PMID: 16442662
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.
Relation: http://www.sciencedirect.com/science/journal/01688227
Type: article (author version)
URI: http://hdl.handle.net/2115/14602
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 清水 力

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