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Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome

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Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusions

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.

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Acknowledgements

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

Funding

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

Author information

Authors and Affiliations

  1. Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran

    Maryam Sobhani

  2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

    Mohammad Amin Tabatabaiefar & Samaneh Nasrniya

  3. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

    Mohammad Amin Tabatabaiefar

  4. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Soudeh Ghafouri-Fard

  5. Iranian Diabetes Society, Tehran, Iran

    Asadollah Rajab

  6. Department of Urology, Massachusetts General Hospital Harvard Medical School, Boston, MA, 02114, USA

    Sarah Mozafarpour & Abdol-Mohammad Kajbafzadeh

  7. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Poursina Ave, 16 Azar St. Keshavarz BLVD, Tehran, 1417613151, Iran

    Mohammad Reza Noori-Daloii

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  1. Maryam Sobhani
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Correspondence to Mohammad Reza Noori-Daloii.

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Sobhani, M., Amin Tabatabaiefar, M., Ghafouri-Fard, S. et al. Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome. Endocrine 66, 185–191 (2019). https://doi.org/10.1007/s12020-019-02004-w

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