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Mirrahimi M, Safi S, Mohammadzadeh M, Doozandeh A, Suri F. Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects. JOVR [Internet]. 2021Oct.25 [cited 2024Apr.20];16(4):602–610. Available from: https://knepublishing.com/index.php/JOVR/article/view/9750

https://doi.org/10.18502/jovr.v16i4.9750

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authors

  • Mehraban Mirrahimi

    Mehraban Mirrahimi

    Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Sare Safi

    Sare Safi

    Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Maryam Mohammadzadeh

    Maryam Mohammadzadeh

    Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Azadeh Doozandeh

    Azadeh Doozandeh

    Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Fatemeh Suri

    Fatemeh Suri

    Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    https://orcid.org/0000-0002-3170-2940

Published Date

  • Oct 25, 2021
This journal is publishing all the articles under Creative Commons Attribution License CC BY 4.0.

Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects

Journal of Ophthalmic and Vision Research (JOVR) / October–December 2021, Volume 16, Issue 4 / Pages 602–610

Abstract

Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family.


Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three affected family members. Genomic DNA was extracted from peripheral blood leukocytes with salting out method and all WFS1 exons and their flanking regions were sequenced. Candidate variation was screened for segregation in the pedigree by Sanger sequencing.


Results: A known pathogenic missense mutation in WFS1 gene (c.1885C>T which leads to p.Arg629Trp in the encoded protein) was identified in all affected individuals. Both clinical and genetic investigations confirmed Wolfram syndrome diagnosis with variable phenotypic features.


Conclusion: Identical mutations in the Wolfram syndrome causative gene can lead to variable manifestations of the syndrome even in the same family. Although the medical findings and clinical examination are imperative for the diagnosis of Wolfram syndrome, genetic testing is useful to confirm the diagnosis, especially in cases with possible reduced penetrance of the characteristic signs.

Keywords:

Variable Clinical Manifestations, WFS1 Gene, Wolfram Syndrome

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