A single base-pair deletion in the WFS1 gene causes Wolfram syndrome

被引：2
作者：
Pitt, Katherine [1 ,2 ]
James, Chela [1 ,2 ]
Kochar, Inderpal S. [3 ]
Kapoor, Akshay [3 ]
Jain, Shilpi [3 ]
Hussain, Khalid [1 ,2 ]
Bennett, Kate [1 ,2 ]
机构：
[1] UCL, Clin & Mol Genet Unit, Dev Endocrinol Res Grp, Inst Child Hlth, London WC1N 1EH, England
[2] Great Ormond St Hosp Sick Children, London WC1N 3JH, England
[3] Indraprastha Apollo Hosp, Apollo Ctr Adv Paediat, Paediat & Adolescent Endocrinol Unit, Delhi, India
来源：
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2011年 / 24卷 / 5-6期
关键词：
diabetes mellitus; WFS1; wolframin; Wolfram syndrome; MUTATIONS;
D O I：
10.1515/JPEM.2011.215
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Wolfram syndrome is a progressive neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The majority of cases are caused by mutations in the WFS1 gene. WFS1 is located at 4p16.1 and encodes wolframin, a transmembrane endoplasmic reticulum (ER) protein involved in the negative regulation of ER stress signalling. To date, over 120 WFS1 mutations have been described. In this study, we report a consanguineous family with three siblings affected by Wolfram syndrome. A homozygous single base pair deletion (c.877delC, L293fsX303) was found in the WFS1 gene in all three affected siblings.
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收藏
页码：389 / 391
页数：3
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