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
| Autor: | Mohammad Amin Tabatabaiefar, Zahra Nouri, Morteza Hashemzadeh Chaleshtori, Akram Sarmadi, Aliasgar Mohammadi, Fatemeh Tabatabaei |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
maturity-onset diabetes of the young 030106 microbiology Population Blood sugar lcsh:Medicine carboxyl ester lipase Maturity onset diabetes of the young 03 medical and health sciences symbols.namesake 0302 clinical medicine pathogenic variant Diabetes mellitus medicine 030212 general & internal medicine Disease-causing Mutation whole-exome sequencing education lcsh:QH301-705.5 Exome sequencing Genetics Sanger sequencing education.field_of_study business.industry lcsh:R General Medicine medicine.disease HNF1A lcsh:Biology (General) symbols Original Article business |
| Zdroj: | Advanced Biomedical Research, Vol 9, Iss 1, Pp 25-25 (2020) Advanced Biomedical Research |
| ISSN: | 2277-9175 |
| Popis: | Background: Diabetes mellitus (DM) is a group of metabolic disorders in the body, accompanied with increasing blood sugar levels. Diabetes is classified into three groups: Type 1 DM (T1DM), Type 2 DM (T2DM), and monogenic diabetes. Maturity-onset diabetes of the young (MODY) is a monogenic diabetes that is frequently mistaken for T1D or T2D. The aim of this study was to diagnose MODY and its subtype frequency in a diabetic population in Iran. Materials and Methods: In this study among ten diabetic families that were highly suspected to MODY by nongenetic biomarkers and without any pathogenic mutation in GCK and HNF1A genes, two patients from two unrelated families were examined via whole-exome sequencing (WES) in order to detect the causative gene of diabetes. Co-segregation analysis of the identified variant was performed using Sanger sequencing. Results: In this study, no pathogenic variant was found in GCK and HNF1A genes (MODY2 and MODY3), while these two types of MODY were introduced as the most frequent in other studies. By using WES, a pathogenic variant (p.I488T) was found in one of the patients in CEL gene causing MODY8 that its frequency is very rare in other studied populations. A high-risk variant associated with diabetes was found in another patient. Conclusion: WES was applied in this study to reveal the cause of MODY in 1 family. This pathogenic mutation was previously reported as a disease causing mutation. |
| Databáze: | OpenAIRE |
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