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
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DOI：
10.1016/j.diabres.2005.12.007
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发表时间：
2006-08-01
影响因子：
5.1
通讯作者：
Koike, Takao
中科院分区：
文献类型：
--
作者：
Nakamura, Akinobu;Shimizu, Chikara;Koike, Takao
Wolfram综合征是一种罕见的常染色体隐性遗传病，以早发性糖尿病、视神经萎缩、神经和内分泌异常为特征。一位47岁的日本男性，经常发生严重低血糖发作，根据临床特征和实验室数据诊断为Wolfram综合征。他的谷氨酸脱羧酶（GAD）和胰岛素瘤相关抗原-2 （IA-2）抗体呈阳性，这两种抗体在这种综合征中并不常见。遗传分析显示，患者的WFS1基因在第8外显子1279位有一个纯合5碱基对（AAGGC）插入，导致密码子371位发生移码，导致密码子443位过早终止。2006爱思唯尔爱尔兰有限公司版权所有。
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. (c) 2006 Elsevier Ireland Ltd. All rights reserved.