Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran

Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran Publisher Pubmed

Asgarian S¹ ; Lanjanian H¹ ; Rahimipour Anaraki S² ; Hadaegh F³ ; Moazzamjazi M¹ ; Najdhassanbonab L¹ ; Masjoudi S¹ ; Zahedi AS¹ ; Zarkesh M¹ ; Shalbafan B⁴ ; Akbarzadeh M¹ ; Tehrani Fateh S⁵ ; Khalili D³ ; Momenan A³ Show All Authors

Asgarian S¹
Lanjanian H¹
Rahimipour Anaraki S²
Hadaegh F³
Moazzamjazi M¹
Najdhassanbonab L¹
Masjoudi S¹
Zahedi AS¹
Zarkesh M¹
Shalbafan B⁴
Akbarzadeh M¹
Tehrani Fateh S⁵
Khalili D³
Momenan A³
Sarbazi N³
Hedayati M¹
Azizi F⁶
Daneshpour MS¹

Show Affiliations

1. Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, P.O. Box 19195-4763, Tehran, Iran
2. Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran
3. Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4. Clinical Research Development Center of Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
6. Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, P.O. Box 19195-4763, Tehran, Iran

Source: Scientific Reports Published:2024

Abstract

Maturity-onset diabetes of the young (MODY) is an uncommon monogenic type of diabetes mellitus. Detecting genetic variants for MODY is a necessity for precise diagnosis and treatment. The majority of MODY genetic predisposition has been documented in European populations and a lack of information is present in Iranians which leads to misdiagnosis as a consequence of defects in unknown variants. In this study, using genetic variant information of 20,002 participants from the family-based TCGS (Tehran Cardiometabolic Genetic Study) cohort, we evaluated the genetic spectrum of MODY in Iran. We concentrated on previously discovered MODY-causing genes. Genetic variants were evaluated for their pathogenicity. We discovered 6 variants that were previously reported in the ClinVar as pathogenic/likely pathogenic (P/LP) for MODY in 45 participants from 24 families (INS in 21 cases, GCK in 13, HNF1B in 8, HNF4A, HNF1A, and CEL in 1 case). One potential MODY variant with Uncertain Risk Allele in ClinVar classification was also identified, which showed complete disease penetrance (100%) in four subjects from one family. This is the first family-based study to define the genetic spectrum and estimate the prevalence of MODY in Iran. The discovered variants need to be investigated by additional studies. © The Author(s) 2024.

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Style	Citing Format
MLA	Asgarian S, et al.. "Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran." Scientific Reports, vol. 14, no. 1, 2024, pp. -.
APA	Asgarian S, Lanjanian H, Rahimipour Anaraki S, Hadaegh F, Moazzamjazi M, Najdhassanbonab L, Masjoudi S, Zahedi AS, Zarkesh M, Shalbafan B, Akbarzadeh M, Tehrani Fateh S, Khalili D, Momenan A, Sarbazi N, Hedayati M, Azizi F, Daneshpour MS (2024). Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran. Scientific Reports, 14(1), -.
Chicago	Asgarian S, Lanjanian H, Rahimipour Anaraki S, Hadaegh F, Moazzamjazi M, Najdhassanbonab L, Masjoudi S, et al.. "Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran." Scientific Reports 14, no. 1 (2024): -.
Harvard	Asgarian S et al. (2024) 'Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran', Scientific Reports, 14(1), pp. -.
Vancouver	Asgarian S, Lanjanian H, Rahimipour Anaraki S, Hadaegh F, Moazzamjazi M, Najdhassanbonab L, et al.. Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran. Scientific Reports. 2024;14(1):-.
BibTex	@article{ author = {Asgarian S and Lanjanian H and Rahimipour Anaraki S and Hadaegh F and Moazzamjazi M and Najdhassanbonab L and Masjoudi S and Zahedi AS and Zarkesh M and Shalbafan B and Akbarzadeh M and Tehrani Fateh S and Khalili D and Momenan A and Sarbazi N and Hedayati M and Azizi F and Daneshpour MS}, title = {Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran}, journal = {Scientific Reports}, volume = {14}, number = {1}, pages = {-}, year = {2024} }
RIS	TY - JOUR AU - Asgarian S AU - Lanjanian H AU - Rahimipour Anaraki S AU - Hadaegh F AU - Moazzamjazi M AU - Najdhassanbonab L AU - Masjoudi S AU - Zahedi AS AU - Zarkesh M AU - Shalbafan B AU - Akbarzadeh M AU - Tehrani Fateh S AU - Khalili D AU - Momenan A AU - Sarbazi N AU - Hedayati M AU - Azizi F AU - Daneshpour MS TI - Examining the Clinical and Genetic Spectrum of Maturity-Onset Diabetes of the Young (Mody) in Iran JO - Scientific Reports VL - 14 IS - 1 SP - EP - PY - 2024 ER -

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