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

Author

Listed:
  • Maurizio Delvecchio

    (Metabolic Diseases, Clinical Genetics and Diabetology Unit, Giovanni XXIII Children’s Hospital, 70126 Bari, Italy)

  • Matteo Iacoviello

    (Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari “Aldo Moro”, 70124 Bari, Italy
    M.I. and A.P. equally contributed to the paper.)

  • Antonino Pantaleo

    (Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari “Aldo Moro”, 70124 Bari, Italy
    M.I. and A.P. equally contributed to the paper.)

  • Nicoletta Resta

    (Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari “Aldo Moro”, 70124 Bari, Italy)

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 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.

Suggested Citation

  • Maurizio Delvecchio & Matteo Iacoviello & Antonino Pantaleo & Nicoletta Resta, 2021. "Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations," IJERPH, MDPI, vol. 18(9), pages 1-12, April.
    • Handle: RePEc:gam:jijerp:v:18:y:2021:i:9:p:4796-:d:546812
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    Citations

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    Cited by:

    1. Luciana Rigoli & Valerio Caruso & Giuseppina Salzano & Fortunato Lombardo, 2022. "Wolfram Syndrome 1: From Genetics to Therapy," IJERPH, MDPI, vol. 19(6), pages 1-18, March.
    2. Giuseppina Salzano & Luciana Rigoli & Mariella Valenzise & Roberto Chimenz & Stefano Passanisi & Fortunato Lombardo, 2022. "Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1," IJERPH, MDPI, vol. 19(1), pages 1-9, January.
    3. Francesco Maria Rosanio & Francesca Di Candia & Luisa Occhiati & Ludovica Fedi & Francesco Paolo Malvone & Davide Fortunato Foschini & Adriana Franzese & Enza Mozzillo, 2022. "Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum," IJERPH, MDPI, vol. 19(2), pages 1-12, January.
    4. Mailis Liiv & Annika Vaarmann & Dzhamilja Safiulina & Vinay Choubey & Ruby Gupta & Malle Kuum & Lucia Janickova & Zuzana Hodurova & Michal Cagalinec & Akbar Zeb & Miriam A. Hickey & Yi-Long Huang & Na, 2024. "ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome," Nature Communications, Nature, vol. 15(1), pages 1-18, December.

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