Maturity onset diabetes of the young (MODY)—History, first case reports and recent advances

Siddiqui, Khalid; Musambil, Mohthash; Nazir, Nyla

doi:10.1016/j.gene.2014.09.062

Cited by 23 publications

(15 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…From a genetic perspective, the conditions broadly defined as "diabetes mellitus" can be classified as either monogenic, including neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY), or polygenetic, including type 1 diabetes and T2D. 9 In the past two decades, numerous candidate gene studies and large-scale GWAS have been performed to identify genetic variants for T2D. Herein we primarily focus on those findings concerning T2D that have been convincingly replicated, ignoring the large number of putative discoveries that lacked replication or were later refuted.…”

Section: Known T2d Susceptibility Locimentioning

confidence: 99%

Genetic markers of type 2 diabetes: Progress in genome‐wide association studies and clinical application for risk prediction

Wang

Strizich

et al. 2015

Journal of Diabetes

View full text Add to dashboard Cite

Type 2 diabetes (T2D) has become a leading public health challenge worldwide. To date, a total of 83 susceptibility loci for T2D have been identified by genome-wide association studies (GWAS). Application of meta-analysis and modern genotype imputation approaches to GWAS data from diverse ethnic populations has been key in the effort to discover T2D loci. Genetic information is expected to play a vital role in the prediction of T2D, and many efforts have been made to develop T2D risk models that include both conventional and genetic risk factors. Yet, because most T2D genetic variants identified have small effect size individually (10%-20% increased risk of T2D per risk allele), their clinical utility remains unclear. Most studies report that a genetic risk score combining multiple T2D genetic variants does not substantially improve T2D risk prediction beyond conventional risk factors. In this article, we summarize the recent progress of T2D GWAS and further review the incremental predictive performance of genetic markers for T2D.

show abstract

Section: Known T2d Susceptibility Locimentioning

confidence: 99%

Genetic markers of type 2 diabetes: Progress in genome‐wide association studies and clinical application for risk prediction

Wang

Strizich

et al. 2015

Journal of Diabetes

View full text Add to dashboard Cite

show abstract

“…[ 10 ] MODY has several specific features that is use to distinguish it from other types of diabetes: Early onset of diabetes (<25 years), early onset diabetes in at least 2 or ideally three family generation, autosomal dominant mode of inheritance, noninsulin dependence (not requiring insulin even after 3 years of diagnosis) in most of its types, and nonketotic forms of diabetes. [ 11 ]…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2020

View full text Add to dashboard Cite

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.

show abstract

“…Copy number variations are found in most of the patients with MODY diabetes, as well as point mutations (Bansal et al, 2017;Weinreich et al, 2015;Thomas et al, 2016). Currently, there are eleven types of MODY, the most common of which are types MODY 2 and MODY 3 with mutations on GCK and HNF1A genes, respectively (Siddiqui et al, 2015;Heuvel-Borsboom et al, 2016;Bishay & Greenfield, 2016;Haliloglu et al, 2016;Karaca et al, 2017). Distinguishing MODY diabetes from other types of diabetes is relevant in conjecture with personalized therapy and new therapeutic advances in diabetes management and care (American Diabetes Association, 2015).…”

Section: Introductionmentioning

confidence: 99%

Copy Number Variation in Mody Diabetes - Familial Case Presentation

Lojo-Kadric

Velija-Ašimi

Ramić

et al. 2018

GenApp

View full text Add to dashboard Cite

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.

show abstract

Maturity onset diabetes of the young (MODY)—History, first case reports and recent advances

Cited by 23 publications

References 32 publications

Genetic markers of type 2 diabetes: Progress in genome‐wide association studies and clinical application for risk prediction

Genetic markers of type 2 diabetes: Progress in genome‐wide association studies and clinical application for risk prediction

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

Copy Number Variation in Mody Diabetes - Familial Case Presentation

Contact Info

Product

Resources

About