Prevalence, clinical features and complications of common forms of Maturity Onset Diabetes of the Young (MODY) seen at a tertiary diabetes centre in south India

Nkonge, 2020, The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY, Clin. Diabetes Endocrinol., 6, 20, 10.1186/s40842-020-00112-5 Unnikrishnan, 2016, Challenges in diagnosis and management of diabetes in the young, Clin. Diabetes Endocrinol., 2, 18, 10.1186/s40842-016-0036-6 Kleinberger, 2015, Undiagnosed MODY: time for action, Curr. Diabetes Rep., 15, 110, 10.1007/s11892-015-0681-7 Aarthy, 2021, Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - a review, J. Diabetes Complicat., 35, 10.1016/j.jdiacomp.2020.107640 Tattersall, 1975, A difference between the inheritance of classical juvenile onset and maturity onset type diabetes of young people, Diabetes, 24, 44, 10.2337/diab.24.1.44 Siddiqui, 2015, Maturity onset diabetes of the young (MODY)--history, first case reports and recent advances, Gene, 555, 66, 10.1016/j.gene.2014.09.062 Mohan, 1985, High prevalence of maturity-onset diabetes of the young (MODY) among Indians, Diabetes Care, 8, 371, 10.2337/diacare.8.4.371 Radha, 2009, Identification of novel variants in the hepatocyte nuclear factor-1α gene in South Indian patients with maturity onset diabetes of young, J. Clin. Endocrinol. Metab., 94, 1959, 10.1210/jc.2008-2371 Anuradha, 2011, Association of novel variants in the hepatocyte nuclear factor 4A gene with maturity onset diabetes of the young and early onset type 2 diabetes, Clin. Genet., 80, 541, 10.1111/j.1399-0004.2010.01577.x Kanthimathi, 2014, Glucokinase gene mutations (MODY 2) in Asian Indians, Diabetes Technol. Ther., 16, 180, 10.1089/dia.2013.0244 Kanthimathi, 2015, Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities, Ann. Hum. Genet., 79, 10, 10.1111/ahg.12093 Doddabelavangala Mruthyunjaya, 2017, Comprehensive maturity onset diabetes of the young (MODY) gene screening in pregnant women with diabetes in India, PLoS One, 12, 10.1371/journal.pone.0168656 Chapla, 2014, Maturity onset diabetes of the young in India – a distinctive mtation pattern identified through targeted next-generation sequencing, Clin. Endocrinol., 82, 533, 10.1111/cen.12541 Pradeepa, 2011, Use of a large diabetes electronic medical record system in India: clinical and research applications, J. Diabetes Sci. Technol., 5, 543, 10.1177/193229681100500309 Karczewski, 2020, Genome aggregation database, the mutational constraint spectrum quantified from variation in 141,456 humans, Nature, 581, 434, 10.1038/s41586-020-2308-7 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for Molecular Pathology, Genet. Med., 17, 405, 10.1038/gim.2015.30 Mohan, 2022, Clinical profile of long-term survivors and nonsurvivors with type 1 diabetes in India, Diabetes Technol. Ther., 24, 120, 10.1089/dia.2021.0284 Friedewald, 1972, Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge, Clin. Chem., 18, 499, 10.1093/clinchem/18.6.499 Snehalatha, 1987, Pancreatic beta cell response in insulin treated NIDDM patients limitations of a random C-peptide measurement, Diabete Metab., 13, 27 Alberti, 1998, Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation, Diabet. Med., 15, 539, 10.1002/(SICI)1096-9136(199807)15:7<539::AID-DIA668>3.0.CO;2-S Vasileiou, 2019, Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?, Prenat. Diagn., 39, 1136, 10.1002/pd.5556 Taghavi, 2009, Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young, Cardiovasc. Diabetol., 8, 63, 10.1186/1475-2840-8-63 Tinto, 2008, Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from south Italy, PLoS One, 3, 10.1371/journal.pone.0001870 Lim, 2008, Hepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients, Korean J. Intern. Med., 23, 165, 10.3904/kjim.2008.23.4.165 Ellard, 2007, Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects, Am. J. Hum. Genet., 81, 375, 10.1086/519174 Amutha, 2012, Clinical profile and complications of childhood- and adolescent-onset type 2 diabetes seen at a diabetes center in South India, Diabetes Technol. Ther., 14, 497, 10.1089/dia.2011.0283 Chobanian, 2003, Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure, Hypertension, 42, 1206, 10.1161/01.HYP.0000107251.49515.c2 Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III), JAMA, 285, 2001, pp. 2486–2497. 〈https://doi.org/10.1001/jama.285.19.2486〉. Early Treatment Diabetic Retinopathy Study Research Group, 1991, Grading diabetic retinopathy from stereoscopic colour fundus photographs – an extension of the modified Airlie House Classification, Ophthalmology, 786 Rema, 2005, Prevalence of diabetic retinopathy in urban India: the Chennai Urban Rural Epidemiology Study (CURES) Eye Study, I, Investig. Ophthalmol. Vis. Sci., 46, 2328, 10.1167/iovs.05-0019 Unnikrishnan, 2007, Prevalence and risk factors of diabetic nephropathy in an urban South Indian population: the Chennai Urban Rural Epidemiology Study (CURES 45), Diabetes Care, 30, 2019, 10.2337/dc06-2554 Pradeepa, 2008, Prevalence and risk factors for diabetic neuropathy in an urban south Indian population: the Chennai Urban Rural Epidemiology Study (CURES-55), Diabet. Med., 25, 407, 10.1111/j.1464-5491.2008.02397.x Owen, 2018, Monogenic diabetes in adults: what are the new developments, Curr. Opin. Genet. Dev., 50, 103, 10.1016/j.gde.2018.04.006 Misra, 2018, Genetics of monogenic diabetes: present clinical challenges, Curr. Diabetes Rep., 18, 141, 10.1007/s11892-018-1111-4 Hattersley, 2017, Precision diabetes: learning from monogenic diabetes, Diabetologia, 60, 769, 10.1007/s00125-017-4226-2 Urbanová, 2018, Hidden MODY-Looking for a Needle in a Haystack, Front. Endocrinol., 9, 10.3389/fendo.2018.00355 Ellard, 2008, Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young, Diabetologia, 51, 546, 10.1007/s00125-008-0942-y Carmody, 2016, GCK-MODY in the US national monogenic diabetes registry: frequently misdiagnosed and unnecessarily treated, Acta Diabetol., 53, 703, 10.1007/s00592-016-0859-8 Owen, 2013, Monogenic diabetes: old and new approaches to diagnosis, Clin. Med., 13, 278, 10.7861/clinmedicine.13-3-278 Rudland, 2019, Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives, Diabetes Metab. Syndr. Obes., 12, 1081, 10.2147/DMSO.S186610 Ali, 2022, Testing for monogenic diabetes is lower than required to reveal its true prevalence in an Australian population, Diabetes Epidemiol. Manag., 10.1016/j.deman.2022.100069 Shields, 2012, The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes, Diabetologia, 55, 1265, 10.1007/s00125-011-2418-8 Zhao, 2022, Clinical characteristics of patients with HNF1-alpha MODY: a literature review and retrospective chart review, Front. Endocrinol, 13 Colclough, 2022, Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of maturity-onset diabetes of the young, Diabetes, 71, 530, 10.2337/db21-0517 Saint-Martin, 2021, Gene panel sequencing of patients with monogenic diabetes brings to light genes typically associated with syndromic presentations, Diabetes, 71, 578, 10.2337/db21-0520 Pihoker, 2013, Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth, J. Clin. Endocrinol. Metab., 98, 4055, 10.1210/jc.2013-1279 Zamanfar, 2022, Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran, J. Pediatr. Endocrinol. Metab., 35, 1240, 10.1515/jpem-2022-0390 Sampathkumar, 2022, Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes, J. Endocrinol. Investig., 45, 607, 10.1007/s40618-021-01698-y Riddle, 2020, Monogenic diabetes: from genetic insights to population-based precision in care. Reflections from a diabetes care editors' expert forum, Diabetes Care, 43, 3117, 10.2337/dci20-0065 Delvecchio, 2020, Treatment options for MODY patients: a systematic review of literature, Diabetes Ther., 11, 1667, 10.1007/s13300-020-00864-4 Velho, 1996, Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q, Diabetes Care, 19, 915, 10.2337/diacare.19.9.915 Isomaa, 1998, Chronic diabetic complications in patients with MODY3 diabetes, Diabetologia, 41, 467, 10.1007/s001250050931 Fu, 2021, A clinical prediction model to distinguish maturity-onset diabetes of the young from type 1 and type 2 diabetes in the Chinese population, Endocr. Pract., 27, 776, 10.1016/j.eprac.2021.05.002