A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
| العنوان: | A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome |
|---|---|
| المؤلفون: | Davood Shah Mohammadi, Shahram Savad, Shahab Noorian |
| المصدر: | Journal of Pediatric Endocrinology and Metabolism. 29 |
| بيانات النشر: | Walter de Gruyter GmbH, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Male, endocrine system, endocrine system diseases, Wolfram syndrome, Endocrinology, Diabetes and Metabolism, Cell, Nonsense mutation, 030209 endocrinology & metabolism, Biology, 030226 pharmacology & pharmacy, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, medicine, Humans, Child, Genetics, Molecular pathology, Endoplasmic reticulum, Membrane Proteins, nutritional and metabolic diseases, Wolfram Syndrome, Prognosis, medicine.disease, medicine.anatomical_structure, Membrane protein, Codon, Nonsense, Pediatrics, Perinatology and Child Health, Protein folding, Biomarkers |
| الوصف: | 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. |
| تدمد: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2015-0045 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09989fe9e04bc7bb577666da417e8a37 https://doi.org/10.1515/jpem-2015-0045 |
| رقم الانضمام: | edsair.doi.dedup.....09989fe9e04bc7bb577666da417e8a37 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 21910251 0334018X |
|---|---|
| DOI: | 10.1515/jpem-2015-0045 |