Special Issue "Wolfram Syndrome in Pediatric Age"

Special Issue Editor

Dr. Fortunato Lombardo
E-Mail Website
Guest Editor
Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy
Interests: pediatric diabetes; type 1 diabetes; monogenic diabetes; technology and diabetes

Special Issue Information

Dear colleagues,

Wolfram syndrome 1 (WS1; OMIM 222300) is a rare, autosomal recessive, neurodegenerative, and progressive disease, also known by the acronym DIDMOAD (diabetes insipidus DI, diabetes mellitus DM, optic atrophy OA, and deafness D). WS1 is an autosomal-recessive disorder usually diagnosed in childhood when non-autoimmune, insulin-dependent diabetes is associated with optic atrophy. Additional clinical manifestations include ureterohydronephrosis, neuropsychiatric and endocrinological impairment, and cataract. WS1 prevalence in the general population has been reported to be from 1/770,000 individuals to 1/54,478 in different ethnic groups.

WS1 is caused by mutations in the WFS1 gene located on 4p16.1 which encodes wolframin, an 890-amino-acid glycoprotein which is involved in the regulation of endoplasmic reticulum (ER) stress responses.

The aims of this Special Issue are:

  • To evaluate the prevalence of Wolfram syndrome in pediatric populations in different ethnic groups;
  • To identify the wide spectrum of clinical manifestations of Wolfram syndrome in children and adolescents;
  • To report genotype–phenotype correlations;
  • To identify early pathognomonic clinical signs of Wolfram syndrome in pediatric patients with non-autoimmune diabetes;
  • To critically evaluate cases of DIDMOAD previously diagnosed as type 1 diabetes.

Dr. Fortunato Lombardo
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2300 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • WS Wolfram syndrome
  • DIDMOAD diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
  • DM diabetes mellitus
  • OA optic atrophy
  • DI diabetes insipidus
  • D deafness

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Review

Review
Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations
Int. J. Environ. Res. Public Health 2021, 18(9), 4796; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph18094796 - 30 Apr 2021
Viewed by 782
Abstract
Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present. The phenotype spectrum is quite wide, and penetrance may [...] Read more.
Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present. The phenotype spectrum is quite wide, and penetrance may be incomplete. The syndrome is progressive, and thus, the clinical picture may change during follow-up. Currently, two different subtypes of this syndrome have been described, and they are associated with two different disease-genes, wolframin (WFS1) and CISD2. These genes encode a transmembrane protein and an endoplasmic reticulum intermembrane protein, respectively. These genes are detected in different organs and account for the pleiotropic features of this syndrome. In this review, we describe the phenotypes of both syndromes and discuss the most pertinent literature about the genotype–phenotype correlation. The clinical presentation of Wolfram syndrome type 1 suggests that the pathogenic variant does not predict the phenotype. There are few papers on Wolfram syndrome type 2 and, thus, predicting the phenotype on the basis of genotype is not yet supported. We also discuss the most pertinent approach to gene analysis. Full article
(This article belongs to the Special Issue Wolfram Syndrome in Pediatric Age)
Show Figures

Figure 1

Back to TopTop