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
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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2020-01-01
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| Series: | Advanced Biomedical Research |
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| Online Access: | http://www.advbiores.net/article.asp?issn=2277-9175;year=2020;volume=9;issue=1;spage=25;epage=25;aulast=Sarmadi |
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| author | Akram Sarmadi Aliasgar Mohammadi Fatemeh Tabatabaei Zahra Nouri Morteza Hashemzadeh Chaleshtori Mohammad Amin Tabatabaiefar |
| author_facet | Akram Sarmadi Aliasgar Mohammadi Fatemeh Tabatabaei Zahra Nouri Morteza Hashemzadeh Chaleshtori Mohammad Amin Tabatabaiefar |
| author_sort | Akram Sarmadi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T10:21:23Z |
| format | Article |
| id | doaj.art-a85b13760df5402db45ec18f016876aa |
| institution | Directory Open Access Journal |
| issn | 2277-9175 |
| language | English |
| last_indexed | 2024-12-19T10:21:23Z |
| publishDate | 2020-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Advanced Biomedical Research |
| spelling | doaj.art-a85b13760df5402db45ec18f016876aa2022-12-21T20:26:03ZengWolters Kluwer Medknow PublicationsAdvanced Biomedical Research2277-91752020-01-0191252510.4103/abr.abr_18_20Molecular 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 geneAkram SarmadiAliasgar MohammadiFatemeh TabatabaeiZahra NouriMorteza Hashemzadeh ChaleshtoriMohammad Amin TabatabaiefarBackground: 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.http://www.advbiores.net/article.asp?issn=2277-9175;year=2020;volume=9;issue=1;spage=25;epage=25;aulast=Sarmadicarboxyl ester lipasematurity-onset diabetes of the youngpathogenic variantwhole-exome sequencing |
| spellingShingle | Akram Sarmadi Aliasgar Mohammadi Fatemeh Tabatabaei Zahra Nouri Morteza Hashemzadeh Chaleshtori Mohammad Amin Tabatabaiefar 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 carboxyl ester lipase maturity-onset diabetes of the young pathogenic variant whole-exome sequencing |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | carboxyl ester lipase maturity-onset diabetes of the young pathogenic variant whole-exome sequencing |
| url | http://www.advbiores.net/article.asp?issn=2277-9175;year=2020;volume=9;issue=1;spage=25;epage=25;aulast=Sarmadi |
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