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Davoudi F, Aminzadeh M, Shahbazian HB, et al. Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management. J Diabetes Metab Disord. 2021;20(2):1369-1374doi: 10.1007/s40200-021-00870-8.
Davoudi, F., Aminzadeh, M., Shahbazian, H. B., Bijanzadeh, M., Ghadiri, A. A., & Ghandil, P. (2021). Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management. Journal of diabetes and metabolic disorders, 20(2), 1369-1374. https://doi.org/10.1007/s40200-021-00870-8
Davoudi, Fatemeh, et al. "Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management." Journal of diabetes and metabolic disorders vol. 20,2 (2021): 1369-1374. doi: https://doi.org/10.1007/s40200-021-00870-8
Davoudi F, Aminzadeh M, Shahbazian HB, Bijanzadeh M, Ghadiri AA, Ghandil P. Molecular diagnosis of maturity onset diabetes of the young in Iranian patients: improving management. J Diabetes Metab Disord. 2021 Aug 19;20(2):1369-1374. doi: 10.1007/s40200-021-00870-8. eCollection 2021 Dec. PMID: 34900788; PMCID: PMC8630313.
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J Diabetes Metab Disord. 2021 Aug 19;20(2):1369-1374. doi: 10.1007/s40200-021-00870-8. eCollection 2021 Dec.

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

Journal of diabetes and metabolic disorders

Fatemeh Davoudi, Majid Aminzadeh, Hajiye Bibi Shahbazian, Mahdi Bijanzadeh, Ata A Ghadiri, Pegah Ghandil

Affiliations

  1. Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  2. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, 6135715753 Ahvaz, Iran.
  3. Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  4. Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

PMID: 34900788 PMCID: PMC8630313 DOI: 10.1007/s40200-021-00870-8

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

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.

© Springer Nature Switzerland AG 2021.

Keywords: Genetic testing; Hepatocyte nuclear factor1 alpha gene; Management; Maturity onset diabetes of the young; Molecular diagnosis

Conflict of interest statement

Conflict of interestNothing to declare.

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