A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
-
Shahab Noorian
,
Shahram Savad
Abstract
Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in the WFS1 gene. The WFS1 gene product, which is called wolframin, is thought to regulate the function of endoplasmic reticulum. The endoplasmic reticulum has a critical role in protein folding and material transportation within the cell or to the surface of the cell. Identification of new mutations in WFS1 gene will unravel the molecular pathology of WS. The aim of this case report study is to describe a novel mutation in exon 4 of the WFS1 gene (c.330C>A) in a 9-year-old boy with WS.
References
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©2016 by De Gruyter
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Artikel in diesem Heft
- Frontmatter
- Review
- Resistance to thyroid hormone α, revelation of basic study to clinical consequences
- Original Articles
- Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
- Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
- Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
- Classification and clinical characterization of metabolically “healthy” obese children and adolescents
- Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
- Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
- Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency
- Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
- A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
- Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
- Pituitary gigantism: a retrospective case series
- Case Reports
- A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
- A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
- A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
- Familial Turner syndrome: the importance of information
- De novo mutation of PHEX in a type 1 diabetes patient
- Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
