A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies
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概要
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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.
- Elsevier Ireland Ltdの論文
著者
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清水 力
北海道大学病院検査・輸血部
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ATSUMI Toshiya
Department of Medicine II, Hokkaido University Graduate School of Medicine
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YOSHIOKA Narihito
Department of Medicine II, Hokkaido University Graduate School of Medicine
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Atsumi Toshiya
Department Of Medicine Ii Hokkaido University Graduate School Of Medicine
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Yoshioka Narihito
Department Of Medicine Ii Hokkaido University Graduate School Of Medicine
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Nagai So
Department Of Medicine Ii Hokkaido University Graduate School Of Medicine
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Koike Takao
Department of Medicine II, Hokkaido University Graduate School of Medicine
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