Background: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations in the WFS1 gene. The WFS1 gene is active in cells of body, with highly expression in the, brain, lungs, heart, inner ear, and pancreas. Within cells, WFS1 gene encodes wolframin protein that is located in a structure of endoplasmic reticulum. Endoplasmic reticulum has critical role in protein folding and material transportation within the cell or to the surface of cell. Although the actual function of wolframin protein is unknown, but based on location, defect of this protein may cause the problem in protein folding or cellular transportation.
Case presentation: In this study DNA sequence of WFS1 gene was analysed in a 9 years old boy, to confirm wolfram syndrome.
Conclusion: We found the novel pathogenic nonsense mutation in exon 4 of WFS1 gene (c.330 C>A). The heterozygosity for parents also confirmed by Sanger sequencing.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology