Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Clinical and Genetic Analysis of Two Wolfram Syndrome Families With High Occurrence of Wolfram Syndrome and Diabetes Type Ii: A Case Report Publisher Pubmed



Sobhani M1 ; Tabatabaiefar MA2, 3 ; Ghafourifard S4 ; Rajab A5 ; Hojat A6 ; Kajbafzadeh AM6 ; Nooridaloii MR7
Authors
Show Affiliations
Authors Affiliations
  1. 1. Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
  2. 2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Iranian Diabetes Society, Tehran, Iran
  6. 6. Pediatric Urology Research Center, Department of Pediatric Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: BMC Medical Genetics Published:2020


Abstract

Background: Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing loss and type-2 diabetes mellitus (T2DM). Our study adds to literature significant associations between WS and T2DM. Case presentation: In this study, we analyzed the clinical and genetic data of two families with high prevalence of WS and T2DM. Genetic linkage analysis and DNA sequencing were exploited to identify pathogenic variants. One novel pathogenic variant (c.2243-2244insC) and one known pathogenic (c.1232_1233delCT) (frameshift) variant were identified in exon eight of WFS1 gene. Conclusions: The mutational and phenotypic spectrum of WS is broadened by our report of novel WFS1 mutation. Our results reveal the value of molecular analysis of WFS1 in the improvement of clinical diagnostics for WS. This study also confirms the role of WFS1 in T2DM. © 2020 The Author(s).
Related Docs
1. Clinical and Molecular Assessment of 13 Iranian Families With Wolfram Syndrome, Endocrine (2019)
2. Management of Bladder Dysfunction in Wolfram Syndrome With Mitrofanoff Appendicovesicostomy: Long-Term Follow-Up, Journal of Pediatric Surgery (2015)
3. Molecular Investigation of Wfs1 Gene Exon 8 in Iranian Patients With Wolfram Syndrome, International Journal of Diabetes in Developing Countries (2016)
4. Homozygosity Mapping and Direct Sequencing Identify a Novel Pathogenic Variant in the Cisd2 Gene in an Iranian Wolfram Syndrome Family, Acta Diabetologica (2020)
5. Endoplasmic Reticulum Stress Inhibition Ameliorated Wfs1 Expression Alterations and Reduced Pancreatic Islets’ Insulin Secretion Induced by High-Fat Diet in Rats, Scientific Reports (2023)
6. Could Drainage Related Ultrasonography Prevent Unnecessary Interventions in Patients With Wolfram Syndrome?, Iranian Journal of Pediatrics (2020)
7. Maternal Stress Induced Endoplasmic Reticulum Stress and Impaired Pancreatic Islets’ Insulin Secretion Via Glucocorticoid Receptor Upregulation in Adult Male Rat Offspring, Scientific Reports (2022)
Experts (# of related papers)
View all Related Experts
Abdolmohammad Kajbafzadeh (4)
Javad Fahanik-Babaei (2)