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Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management

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Abstract

Background

The purpose of this study is to identify the mutations of the most common form of maturity-onset diabetes of the young (MODY), also known as MODY3, in diabetic patients suspected of MODY. This can recommend appropriate medical surveillance of at-risk family members of MODY based on the genetic cause.

Methods

We analyzed the clinical course of 19 patients from 12 unrelated Iranian families with diabetes features. The coding regions and intron–exon boundaries of the hepatocyte nuclear factor 1 alpha (HNF1A) gene were studied by polymerase chain reaction (PCR) and sanger sequencing. Also, the detected mutation was analyzed by bioinformatics tools.

Results

One novel frameshift insertion mutation (p.Glu11Argfs*12) was detected in one of the probands and seven other patients of her family with the heterozygote state. The mutation is located in the exon1 of the dimerization domain of the HNF1A gene. According to the In Silico analysis, the detected mutation is predicted as a pathogenic one.

Conclusions

Differential diagnosis between MODY3 and other forms of diabetes can be considered a necessity in terms of overlapping symptoms of MODY3 with type1 or 2 diabetes. Molecular genetic testing can provide an accurate diagnosis for optimal management.

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Acknowledgements

We thank the patients and their families for their cooperation and trust. This work was supported by Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences (Research Project No: D-9610). This article is the result of Miss. Fatemeh Davoudi thesis to obtain a master degree in human genetics from Ahvaz Jundishapur University of Medical Sciences.

Funding

This work was supported by Ahvaz Jundishapur University Medical Sciences (Research Project No: D-9610).

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Authors and Affiliations

  1. Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

    Fatemeh Davoudi, Majid Aminzadeh, Hajiye Bibi Shahbazian & Pegah Ghandil

  2. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, 6135715753, Ahvaz, Iran

    Fatemeh Davoudi, Mahdi Bijanzadeh & Pegah Ghandil

  3. Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

    Majid Aminzadeh

  4. Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

    Ata A. Ghadiri

Authors
  1. Fatemeh Davoudi
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  2. Majid Aminzadeh
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  3. Hajiye Bibi Shahbazian
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  4. Mahdi Bijanzadeh
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  5. Ata A. Ghadiri
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  6. Pegah Ghandil
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Corresponding author

Correspondence to Pegah Ghandil.

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Nothing to declare.

Ethics approval

The study was approved by the Ethics Committee of the Ahvaz Jundishapur University of Medical Sciences (IR.AJUMS.REC.1396.822).

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

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

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Davoudi, F., Aminzadeh, M., Shahbazian, H.B. et al. Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management. J Diabetes Metab Disord 20, 1369–1374 (2021). https://doi.org/10.1007/s40200-021-00870-8

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  • DOI: https://doi.org/10.1007/s40200-021-00870-8

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