c.2425G>A mutation in the WFS1 gene associated with Wolfram syndrome: a case report

2018 ◽  
Vol 39 (1) ◽  
pp. 232-235
Author(s):  
Liu Ying
Keyword(s):  
Case Report ◽  
Wolfram Syndrome ◽  
Wfs1 Gene

scholarly journals A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G>A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case Report

2020 ◽  
Author(s):  
Reyida Aishajiang ◽  
Cheng Li ◽  
Bo-Tao Shen ◽  
Jian Sun ◽  
Wei Zhao
Keyword(s):  
Case Report ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Wolfram Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Sagittal Sinus ◽  
Wfs1 Gene ◽  
Tract Infections

Abstract Background:Wolfram syndrome (WS) is a rare autosomal recessive disorder associated with early-onset diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and hearing impairment. Most patients with WS have mutations in the WFS1 gene, which encodes wolframin. This case report describes a patient with a novel heterozygous mutation of WFS1.Case Presentation:The proband was a 27-year-old Chinese male with WS who had developed DM at the age of 2 years, DI in the first decade, OA, neurogenic bladder and urinary tract infections in the second decade, and neurological abnormalities in later life. Magnetic resonance imaging suggested superior sagittal sinus enlargement and atrophy of the medulla and pons. Sequencing showed that the proband’s asymptomatic parents were both carriers: the father carried a heterozygous c.1997G>A mutation that creates a premature stop at codon 666 (W666X) and that the proband’s asymptomatic mother carried a heterozygous c.2113_2114insT mutation that generates a frameshift downstream to codon 705 (K705Ifs*7) and leads to a stop at codon 711. The proband had both the above C-terminal mutations, resulting in the substitution of N-glycosylation sitesthat are associated with the stability of wolframin.Conclusion:We have identified a novel compound heterozygous mutation of WFS1 that is associated with WS. Our findings may facilitate future screening of WS carriers.

Heterozygous Deletion of Exon 8 in WFS1 Gene in Two Wolfram Syndrome Probands with Hearing Loss: Case Report

2011 ◽  
Vol 31 (1) ◽  
pp. 245-250
Author(s):  
Emine Elif ALTUNTAŞ ◽  
Öztürk ÖZDEMİR ◽  
Adem BORA ◽  
Binnur KÖKSAL ◽  
Hande KÜÇÜK KURTULGAN ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Wolfram Syndrome ◽  
Heterozygous Deletion ◽  
Wfs1 Gene

scholarly journals A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Min Li ◽  
Jia Liu ◽  
Huan Yi ◽  
Li Xu ◽  
Xiufeng Zhong ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Wolfram Syndrome ◽  
Chinese Patient ◽  
Wfs1 Gene

Wolfram syndrome with hypergonadotropic hypogonadism: case report

2014 ◽  
Author(s):  
Murat Sahin ◽  
Ayten Oguz ◽  
Selda Yilmaz ◽  
Elif Inanc ◽  
Murat Ozdemir ◽  
...  
Keyword(s):  
Case Report ◽  
Wolfram Syndrome ◽  
Hypergonadotropic Hypogonadism

scholarly journals Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation

2021 ◽  
Author(s):  
Eleonora Panfili ◽  
Giada Mondanelli ◽  
Ciriana Orabona ◽  
Maria L Belladonna ◽  
Marco Gargaro ◽  
...  
Keyword(s):  
Er Stress ◽  
Mononuclear Cells ◽  
Autosomal Recessive Disorder ◽  
Wolfram Syndrome ◽  
Therapeutic Interventions ◽  
T Helper 17 ◽  
Gene Encoding ◽  
Peripheral Blood Mononuclear ◽  
Inflammatory State ◽  
Wfs1 Gene

Abstract Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus and neurological signs. We identified two novel WFS1 mutations in a patient with WS, namely, c.316-1G > A (in intron 3) and c.757A > T (in exon 7). Both mutations, located in the N-terminal region of the protein, were predicted to generate a truncated and inactive form of WFS1. We found that although the WFS1 protein was not expressed in peripheral blood mononuclear cells (PBMCs) of the proband, no constitutive ER stress activation could be detected in those cells. In contrast, WS proband’s PBMCs produced very high levels of proinflammatory cytokines (i.e. TNF-α, IL-1β, and IL-6) in the absence of any stimulus. WFS1 silencing in PBMCs from control subjects by means of small RNA interference also induced a pronounced proinflammatory cytokine profile. The same cytokines were also significantly higher in sera from the WS patient as compared to matched healthy controls. Moreover, the chronic inflammatory state was associated with a dominance of proinflammatory T helper 17 (Th17)-type cells over regulatory T (Treg) lymphocytes in the WS PBMCs. The identification of a state of systemic chronic inflammation associated with WFS1 deficiency may pave the way to innovative and personalized therapeutic interventions in WS.

scholarly journals Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Maryam Sobhani ◽  
Mohammad Amin Tabatabaiefar ◽  
Soudeh Ghafouri-Fard ◽  
Asadollah Rajab ◽  
Asal Hojjat ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
Wolfram Syndrome ◽  
Diabetes Type ◽  
Type Ii ◽  
High Occurrence ◽  
Diabetes Type Ii

Corrigendum to “Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients” [GENE 566/1 (2015) 63–67]

Gene ◽  
2015 ◽  
Vol 568 (2) ◽  
pp. 227
Author(s):  
Maria E. Blanco-Aguirre ◽  
David Rivera-De la Parra ◽  
Hugo Tapia-Garcia ◽  
Johanna Gonzalez-Rodriguez ◽  
Daniela Welschen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Clinical Assessment ◽  
Wolfram Syndrome ◽  
Gene Screening ◽  
Wfs1 Gene

Wolfram syndrome and WFS1 gene

2010 ◽  
Vol 79 (2) ◽  
pp. 103-117 ◽  
Author(s):  
L Rigoli ◽  
F Lombardo ◽  
C Di Bella
Keyword(s):  
Wolfram Syndrome ◽  
Wfs1 Gene

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients

Gene ◽  
2015 ◽  
Vol 566 (1) ◽  
pp. 63-67 ◽  
Author(s):  
Maria E. Blanco-Aguirre ◽  
David Rivera-De la Parra ◽  
Hugo Tapia-Garcia ◽  
Johanna Gonzalez-Rodriguez ◽  
Daniela Welskin ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Clinical Assessment ◽  
Wolfram Syndrome ◽  
Gene Screening ◽  
Wfs1 Gene

scholarly journals Wolfram syndrome: A rare case report

2019 ◽  
Vol 62 (3) ◽  
pp. 477
Author(s):  
Aditi Parihar ◽  
Anitha Padmanabhan ◽  
UrmiS C. Vartak ◽  
NitinM Gadgil
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Wolfram Syndrome ◽  
Rare Case Report
Sign in / Sign up

Export Citation Format

Share Document