Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review

BMC Endocrine Disorders

Asif Mir¹  Ibrar Rafique²  Muhammad Naeem³  Muhammad Arif Nadeem Saqib⁴  Luc Marchand⁵  Constantin Polychronakos⁶ 

[1] Department of Biological Sciences, International Islamic University, Islamabad, Pakistan;Department of Biological Sciences, International Islamic University, Islamabad, Pakistan;Graduate Research Trainee, Department of Pediatrics and Human Genetics, McGill University Health Centre Research Institute, Montreal, Canada;Research Officer, Pakistan Health Research Council, Sector G-5/2, Islamabad, Pakistan;Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan;Department of Medical Laboratory Technology, National Skills University, Islamabad, Pakistan;Department of Pediatrics and Human Genetics, McGill University Health Centre Research Institute, Montreal, Canada;Departments of Pediatrics and Human Genetics, McGill University Health Centre Research Institute, 1001 Decarie Boulevard, Montréal, Québec, Canada;

关键词: Causal variants;    MODY;    Diabetes;    Genetics;   

DOI  :  10.1186/s12902-021-00891-7

来源: Springer

【 摘 要 】

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 A total of 1017 variants were identified through literature review and 74 unpublished variants from Clinvar database.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.

【 授权许可】

CC BY