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Study of the Frequency and Clinical Features of Maturity-Onset Diabetes in the Young in the Pediatric and Adolescent Diabetes Population in Iran Publisher Pubmed



Monajati M1 ; Zamanfar D2, 3 ; Ferdosipour F4 ; Ebrahimi P5 ; Moghadam M6 ; Amoli MM7 ; Asadi M7
Authors
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Authors Affiliations
  1. 1. Department of Internal Medicine, Golestan University of Medical Sciences, Gorgan, Iran
  2. 2. Diabetes Research Center of Mazandaran, Mazandaran University of Medical Sciences, Sari, Iran
  3. 3. Diabetes Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Mazandaran University of Medical Sciences, Sari, Iran
  5. 5. Department of Pharmacy, Health and Nutritional Sciences(DFSSN), University of Calabria, Calabria, Italy
  6. 6. Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  7. 7. Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Journal of Pediatric Endocrinology and Metabolism Published:2022


Abstract

Objectives: Maturity-onset diabetes of the young (MODY), an autosomal dominant disease, is frequently misdiagnosed as type 1 or 2 diabetes. Molecular diagnosis is essential to distinguish them. This study was done to investigate the prevalence of MODY subtypes and patients' clinical characteristics. Methods: A total of 43 out of 230 individuals with diabetes were selected based on the age of diagnosis >6 months, family history of diabetes, absence of marked obesity, and measurable C-peptide. Next-generation and direct SANGER sequencing was performed to screen MODY-related mutations. The variants were interpreted using the Genome Aggregation Database (genomAD), Clinical Variation (ClinVar), and pathogenicity prediction tools. Results: There were 23 males (53.5%), and the mean age at diabetes diagnosis was 6.7 ± 3.6 years. Sixteen heterozygote single nucleotide variations (SNVs) from 14 patients (14/230, 6%) were detected, frequently GCK (37.5%) and BLK (18.7%). Two novel variants were identified in HNF4A and ABCC8. Half of the detected variants were categorized as likely pathogenic. Most prediction tools predicted Ser28Cys in HNF4A as benign and Tyr123Phe in ABCC8 as a pathogenic SNV. Six cases (42.8%) with positive MODY SNVs had islet autoantibodies. At diagnosis, age, HbA1c, and C-peptide level were similar between SNV-positive and negative patients. Conclusions: This is the first study investigating 14 variants of MODY in Iran. The results recommend genetic screening for MODY in individuals with unusual type 1 or 2 diabetes even without family history. Treatment modifies depending on the type of patients' MODY and is associated with the quality of life. © 2022 Authors. All rights reserved.
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1. Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the Cel Gene, Advanced Biomedical Research (2020)
2. Type 1 Diabetes Genetic Risk Score Discriminates Between Monogenic and Type 1 Diabetes in Children Diagnosed at the Age of <5 Years in the Iranian Population, Diabetic Medicine (2019)
3. Mutations in Hnf1a Gene Are Not a Common Cause of Familial Young-Onset Diabetes in Iran, Indian Journal of Clinical Biochemistry (2018)
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