Abstract
BackgroundMaturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes. Reviews for clinical characteristics, diagnosis and treatments are available but a comprehensive list of genetic variants, is lacking. Therefore this study was designed to collect all the causal variants involved in MODY, reported to date.MethodsWe searched PubMed from its date of inception to December 2019. The search terms we used included disease names and name of all the known genes involved. The ClinVar database was also searched for causal variants in the known 14 MODY genes.ResultsThe record revealed 1647 studies and among them, 326 studies were accessed for full-text. Finally, 239 studies were included, as per our inclusion criteria. A total of 1017 variants were identified through literature review and 74 unpublished variants from Clinvar database. The gene most commonly affected was GCK, followed by HNF1a. The traditional Sanger sequencing was used in 76 % of the cases and 65 % of the studies were conducted in last 10 years. Variants from countries like Jordan, Oman and Tunisia reported that the MODY types prevalent worldwide were not common in their countries.ConclusionsWe expect that this paper will help clinicians interpret MODY genetics results with greater confidence. Discrepancies in certain middle-eastern countries need to be investigated as other genes or factors, like consanguinity may be involved in developing diabetes.
Highlights
Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes
The objective of this review was to collate the genetic variants reported so far from the literature on the known 14 genes involved in MODY, as listed in Online Mendelian Inheritance in Man (OMIM)
Different combinations of search terms were used for search strategy, as follows: Maturity Onset diabetes of the Young OR Monogenic diabetes AND MODY OR ABCC8 OR APPL1 OR BLK OR CEL OR GCK OR HNF1A OR HNF1B OR HNF4A OR INS OR KCNJ11 OR KLF11 OR NEUROD1 OR PAX4 OR PDX1
Summary
Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. This study was designed to collect all the causal variants involved in MODY, reported to date. Maturity Onset diabetes of the Young (# 606,392) is an autosomal dominant genetic disease. It is usually difficult to diagnose as most of the clinical symptoms overlap with type 1 and type 2 diabetes. The traditional method used for the identification of MODY was using direct sequencing of most commonly affected genes in MODY like GCK, HNF1a and HNF4a. Τargeted NGS, uses a panel of genes that are reported to be involved in MODY. The whole exome sequencing is advantageous as it helped in identification of new genes involved in MODY [5]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
