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Review

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations

1
Metabolic Diseases, Clinical Genetics and Diabetology Unit, Giovanni XXIII Children’s Hospital, 70126 Bari, Italy
2
Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari “Aldo Moro”, 70124 Bari, Italy
*
Author to whom correspondence should be addressed.
M.I. and A.P. equally contributed to the paper.
Academic Editor: Paul Tchounwou
Int. J. Environ. Res. Public Health 2021, 18(9), 4796; https://doi.org/10.3390/ijerph18094796
Received: 9 March 2021 / Revised: 27 April 2021 / Accepted: 27 April 2021 / Published: 30 April 2021
(This article belongs to the Special Issue Wolfram Syndrome in Pediatric Age)
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. View Full-Text
Keywords: Wolfram syndrome; wolframin; ERIS; CISD2; molecular genetics; genotype-phenotype correlation; diabetes mellitus; optic atrophy; sensorineural hearing loss; diabetes insipidus Wolfram syndrome; wolframin; ERIS; CISD2; molecular genetics; genotype-phenotype correlation; diabetes mellitus; optic atrophy; sensorineural hearing loss; diabetes insipidus
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MDPI and ACS Style

Delvecchio, M.; Iacoviello, M.; Pantaleo, A.; Resta, N. 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, 4796. https://doi.org/10.3390/ijerph18094796

AMA Style

Delvecchio M, Iacoviello M, Pantaleo A, Resta N. Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations. International Journal of Environmental Research and Public Health. 2021; 18(9):4796. https://doi.org/10.3390/ijerph18094796

Chicago/Turabian Style

Delvecchio, Maurizio, Matteo Iacoviello, Antonino Pantaleo, and Nicoletta Resta. 2021. "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations" International Journal of Environmental Research and Public Health 18, no. 9: 4796. https://doi.org/10.3390/ijerph18094796

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