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A total of variants were identified through literature review in 14 known genes and attached as supplementary Table 2. A total of 94 pathogenic variants were identified from ClinVar and 20 among them were already in the list and were therefore excluded. The list of those 74 variants is attached as supplementary Table 3. This is the comprehensive systematic review to investigate the causal variants in the 14 genes of MODY listed in OMIM, as reported so far in the literature.
This review provides the comprehensive list of causal variants identified so far for MODY. The first causal variant in the GCK gene was identified in [ 9 ]. The glucokinase GCK gene is member of hexokinase proteins. It plays its role in first step in metabolic pathway i. It is not known how many cases remain undiagnosed, and prevalence depends on screening and referral patterns in these asymptomatic patients. True prevalence may be even higher. The gene encodes a widely expressed transcription factor, whose haplo-insufficiency appears to be deleterious specifically for beta-cells [ 11 ].
The patients with MODY 3 had variable symptoms with appearance at early adult life and increasing hyperglycemia with increased risk of micro-vascular and macro-vascular complications. The patients with HNF1A MODY are sensitive to sulphonylurea and low dose of sulphonylurea is generally the first line of treatment for these patients [ 12 ].
This gene encodes a transcription factor. Its symptoms is similar to the MODY3 [ 13 ]. Variants in INS , encoding a protein regulating crucial metabolic processes [ 14 ] lead to misfolding of insulin and defective trafficking. The clinical severity varies among different cases [ 15 , 16 ]. The ABCC8 gene contains 39 exons and encodes the sulphonylurea receptor 1 protein that controls insulin release [ 17 ].
Its symptoms may include overweight or obesity in some cases [ 19 ]. Dorsal pancreatic agenesis was reported with this MODY type [ 20 ]. This gene belong to basic helix loop helix transcription factors and played a role in transcription of E-box genes [ 21 ]. The other five types i. The use of latest technologies like targeted next generation sequencing and whole exome sequencing become crucial for identification of new gene variant involved in the MODY.
It is reported in the literature that for many rare diseases, new genes were identified by the use of these latest techniques [ 23 , 24 , 25 ]. It is recommended that the latest technologies WES must be used so that identification of new variants in the genes involved in MODY can be identified. It was observed that countries like Tunisia [ 8 , 26 ] Oman [ 6 ] Jordan [ 7 ] reported that MODY types that are more common in Caucasian population were not common in their countries.
This implies to the fact that there might be other genes to be involved in early onset of diabetes in these countries. Therefore there is a need for whole exome studies of suspected MODY patients from these countries so that new genes or types involved in the MODY can be identified. There may be the recessive mutations involved, as reported in China for the early onset of diabetes due to non-syndromic recessive WFS1 mutations [ 27 ].
As these countries like Tunisia, Oman, Jordan, Pakistan have high rate of consanguinity [ 28 , 29 , 30 , 31 , 32 ] so there may be possible forms of recessive mutations causing diabetes. The limitation of this review was that we only collect the novel and pathogenic variants from published studies, a source that may distort the relative prevalence of different genes, based on how distinct the phenotype is e.
MODY2 or which genes are included in the diabetes panels. In the future, the systematic use of exome sequencing will reveal the true relative prevalence. The results will help clinicians in interpret MODY genetics results with greater confidence. Diabetes care. Amed S, Oram R. Canadian journal of diabetes. Article Google Scholar. A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
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Frontiers in genetics. Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies. PloS one. La Tunisie medicale. Mohammad ABRR. Global distribution of consanguinity and their impact on complexdiseases: Genetic disorders from an endogamous population. Merten M. Keeping it in the family: consanguineous marriage and genetic disorders, from Islamabad to Bradford.
Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia. American journal of human biology: the official journal of the Human Biology Council. Mazharul Islam M. Consanguineous marriage in Oman: understanding the community awareness about congenital effects of and attitude towards consanguineous marriage. Annals of human biology. Consanguineous Marriage in Jordan: An Update. Journal of biosocial science. Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
Nature communications. Download references. The funder has no role in design of the study, collection, analysis and interpretation of data and writing of manuscript. You can also search for this author in PubMed Google Scholar. All authors have read and approved the manuscript. Correspondence to Asif Mir or Constantin Polychronakos. Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Hoffman LS, Jialal I. Diabetes, maturity onset in the young MODY. In: StatPearls. Treasure Island: StatPearls Publishing; Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. Maturity-onset diabetes of the young: from a molecular basis perspective toward the clinical phenotype and proper management. Endocrinol Nutr. Urakami T. Maturity-onset diabetes of the young MODY : current perspectives and treatment.
Diabetes Metab Syndr Obes. Genetic testing of maturity-onset diabetes of the young current status and future perspectives. Front Endocrinol Lausanne. Maturity-onset diabetes of the young MODY : an update. J Pediatr Endocrinol Metab. CAS Google Scholar. Screening for monogenic diabetes in primary care. Prim Care Diabetes. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Maturity-onset diabetes of the young MODY : a time to act. Lancet Diabetes Endocrinol. Update on clinical screening of maturity-onset diabetes of the young MODY. Diabetol Metab Syndr. Hidden MODY-looking for a needle in a haystack. Identification of candidate children for maturity-onset diabetes of the young type 2 MODY2 gene testing: a seven-item clinical flowchart 7-iF. Plos One. Clin Diabetes Endocrinol. Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.
Maturity-onset diabetes of the young overview. Seattle: University of Washington; When to consider a diagnosis of MODY at the presentation of diabetes: aetiology matters for correct management. Br J Gen Pract. J Clin Res Pediatr Endocrinol. Exome sequencing and genetic testing for MODY. Am J Med Genet A. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q Eur J Human Genet.
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Germany Horm Res in Paediatr. Type 2 diabetes mellitus in children and adolescents is still a rare disease in Germany: a population-based assessment of the prevalence of type 2 diabetes and MODY in patients aged years. Pediatr Diabetes. Undiagnosed MODY: time for action. A decade of molecular genetic testing for MODY: a retrospective study of utilization in the Netherlands.
Eur J Hum Genet. Maturity-onset diabetes of the young MODY : how many cases are we missing? Prevalence of monogenic diabetes in the population-based Norwegian childhood diabetes registry. Targeted next-generation sequencing reveals MODY in up to 6. Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5-year pediatric Swedish national cohort study.
Systematic genetic study of youth with diabetes in a single country reveals the prevalence of diabetes subtypes, novel candidate genes, and response to precision therapy. Monogenic diabetes accounts for 6. J Clin Endocrinol Metab. The prevalence of monogenic diabetes in Australia: the Fremantle diabetes study phase II. Med J Aust. Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: a prospective national surveillance study. Diabetes Res Clin Pract.
Systematic population screening, using biomarkers and genetic testing, identifies 2. Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire. UK Diabetologia. Prevalence of monogenic diabetes amongst polish children after a nationwide genetic screening campaign.
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J Clin Invest. Genotype and phenotype analyses in pediatric patients with HNF1B mutations. J Clin Med. Nat Genet. J Biol Chem. PAX4 mutations in Thais with maturity onset diabetes of the young. Mutations at the BLK locus linked to maturity-onset diabetes of the young and beta-cell dysfunction. Update on mutations in glucokinase GCK , which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
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Biochim Biophys Acta. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation. Rudland VL. Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives. Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young CEL-MODY : a protein misfolding disease.
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