, Volume 66, Issue 2, pp 185–191 | Cite as

Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome

  • Maryam Sobhani
  • Mohammad Amin Tabatabaiefar
  • Soudeh Ghafouri-Fard
  • Asadollah Rajab
  • Sarah Mozafarpour
  • Samaneh Nasrniya
  • Abdol-Mohammad Kajbafzadeh
  • Mohammad Reza Noori-DaloiiEmail author
Original Article



Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, optic nerve atrophy, sensorineural hearing loss, urinary tract abnormalities, and psychiatric disorders. WFS1 and WFS2 loci are the main genetic loci associated with this disorder.


In the current study, we investigated associations between these loci and WS via STR markers and homozygosity mapping in 13 Iranian families with WS. All families were linked to WFS1 locus.


Mutation analysis revealed four novel mutations (Q215X, E89X, S168Del, and E391Sfs*51) in the assessed families. Bioinformatics tools confirmed the pathogenicity of the novel mutations. Other identified mutations were previously reported in other populations for their pathogenicity.


The current study adds to the mutation repository of WS and shows a panel of mutations in Iranian population. Such panel would facilitate genetic counseling and prenatal diagnosis in families with WS cases.


Wolfram Syndrome WFS1 



The current study was supported by a grant from Tehran University of Medical Sciences.


This study was funded by a grant from Tehran University of Medical Sciences.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Maryam Sobhani
    • 1
  • Mohammad Amin Tabatabaiefar
    • 2
    • 3
  • Soudeh Ghafouri-Fard
    • 4
  • Asadollah Rajab
    • 5
  • Sarah Mozafarpour
    • 6
  • Samaneh Nasrniya
    • 2
  • Abdol-Mohammad Kajbafzadeh
    • 6
  • Mohammad Reza Noori-Daloii
    • 7
    Email author
  1. 1.Blood Transfusion Research CenterHigh Institute for Research and Education in Transfusion MedicineTehranIran
  2. 2.Department of Genetics and Molecular Biology, School of MedicineIsfahan University of Medical SciencesIsfahanIran
  3. 3.Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable DiseaseIsfahan University of Medical SciencesIsfahanIran
  4. 4.Department of Medical GeneticsShahid Beheshti University of Medical SciencesTehranIran
  5. 5.Iranian Diabetes SocietyTehranIran
  6. 6.Department of UrologyMassachusetts General Hospital Harvard Medical SchoolBostonUSA
  7. 7.Department of Medical Genetics, School of MedicineTehran University of Medical SciencesTehranIran

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