Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes

References

• Bell GI, Polonsky KS. Diabetes mellitus and genetically programmed defects in beta-cell function. Nature. 2001;414(6865):788–791. doi:10.1038/414788a
   PubMed Web of Science ®Google Scholar
• Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345(13):971–980. doi:10.1056/NEJMra002168
   PubMed Web of Science ®Google Scholar
• Owen K, Hattersley AT. Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab. 2001;15(3):309–323. doi:10.1053/beem.2001.0148
   PubMed Web of Science ®Google Scholar
• Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue KC. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2009;10(Suppl 12):33–42. doi:10.1111/j.1399-5448.2009.00571.x
   PubMedGoogle Scholar
• Hattersley AT, Pearson ER. Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology. 2006;147(6):2657–2663. doi:10.1210/en.2006-0152
   PubMedGoogle Scholar
• Patel KA, Kettunen J, Laakso M, et al. Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun. 2017;8(1):888. doi:10.1038/s41467-017-00895-9
   PubMedGoogle Scholar
• Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab. 2008;4(4):200–213. doi:10.1038/ncpendmet0778
   PubMedGoogle Scholar
• Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 2014;311(3):279–286. doi:10.1001/jama.2013.283980
   PubMed Web of Science ®Google Scholar
• Hansen T, Eiberg H, Rouard M, et al. Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes. 1997;46(4):726–730. doi:10.2337/diab.46.4.726
   PubMedGoogle Scholar
• Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet. 2003;362(9392):1275–1281. doi:10.1016/S0140-6736(03)14571-0
   PubMed Web of Science ®Google Scholar
• Harris AG, Letourneau LR, Greeley SAW. Monogenic diabetes: the impact of making the right diagnosis. Curr Opin Pediatr. 2018;30(4):558–567. doi:10.1097/MOP.0000000000000643
   PubMed Web of Science ®Google Scholar
• Hattersley AT. Molecular genetics goes to the diabetes clinic. Clin Med. 2005;5(5):476–481. doi:10.7861/clinmedicine.5-5-476
   PubMedGoogle Scholar
• Vaxillaire M, Froguel P. Genetic basis of maturity-onset diabetes of the young. Endocrinol Metab Clin North Am. 2006;35(2):371–384. doi:10.1016/j.ecl.2006.02.009
   PubMedGoogle Scholar
• Fajans SS, Bell GI. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011;34(8):1878–1884. doi:10.2337/dc11-0035
   PubMed Web of Science ®Google Scholar
• Delvecchio M, Ludovico O, Menzaghi C, et al. Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital. Diabetes Care. 2014;37(12):e258–60. doi:10.2337/dc14-1788
   PubMedGoogle Scholar
• Pihoker C, Gilliam LK, Ellard S, et al. 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. 2013;98(10):4055–4062. doi:10.1210/jc.2013-1279
   PubMed Web of Science ®Google Scholar
• Lamri L, Gripiotis E, Ferrario A. Diabetes in Algeria and challenges for health policy: a literature review of prevalence, cost, management and outcomes of diabetes and its complications. Global Health. 2014;10:11. doi:10.1186/1744-8603-10-11
   PubMedGoogle Scholar
• Bouldjennet F, Hireche A, Kechout N, et al. Clinical characteristics of Algerian subjects with MODY p. R85W glucokinase mutation-in silico assessment of p. R85W effect on glucokinase structure and function. Meta Gene. 2019;19:268–275. doi:10.1016/j.mgene.2018.12.013
   Google Scholar
• Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:3. doi:10.1093/nar/16.3.1215
   Web of Science ®Google Scholar
• Gao R, Liu Y, Gjesing AP, et al. Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. BMC Genet. 2014;15:13. doi:10.1186/1471-2156-15-13
   PubMedGoogle Scholar
• Richards S, Aziz N, Bale S, et al. 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. Genetics Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30
   PubMed Web of Science ®Google Scholar
• Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–291.
   PubMed Web of Science ®Google Scholar
• The Greater Middle East (GME) Variome Project. 2020. Available from: http://igm.ucsd.edu/gme/index.php. Accessed November 16, 2020.
   Google Scholar
• Osbak KK, Colclough K, Saint-Martin C, et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009;30(11):1512–1526. doi:10.1002/humu.21110
   PubMed Web of Science ®Google Scholar
• Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat. 2013;34(5):669–685.
   PubMed Web of Science ®Google Scholar
• De Franco E, Saint-Martin C, Brusgaard K, et al. Update of variants identified in the pancreatic beta-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020;41(5):884–905. doi:10.1002/humu.23995
   PubMedGoogle Scholar
• Glumer C, Jorgensen T, Borch-Johnsen K, Inter S. Prevalences of diabetes and impaired glucose regulation in a Danish population: the Inter99 study. Diabetes Care. 2003;26(8):2335–2340. doi:10.2337/diacare.26.8.2335
   PubMed Web of Science ®Google Scholar
• Anik A, Catli G, Abaci A, et al. Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing. J Ped Endocrinol Metabol. 2015;28(11–12):1265–1271. doi:10.1515/jpem-2014-0430
   PubMedGoogle Scholar
• Bellanne-Chantelot C, Clauin S, Chauveau D, et al. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes. 2005;54(11):3126–3132. doi:10.2337/diabetes.54.11.3126
   PubMed Web of Science ®Google Scholar
• Stride A, Vaxillaire M, Tuomi T, et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia. 2002;45(3):427–435. doi:10.1007/s00125-001-0770-9
   PubMed Web of Science ®Google Scholar
• Stride A, Shields B, Gill-Carey O, et al. Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. 2014;57(1):54–56. doi:10.1007/s00125-013-3075-x
   PubMedGoogle Scholar
• Njolstad PR, Sovik O, Cuesta-Munoz A, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001;344(21):1588–1592. doi:10.1056/NEJM200105243442104
   PubMed Web of Science ®Google Scholar
• Stoffel M, Froguel P, Takeda J, et al. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc Natl Acad Sci U S A. 1992;89(16):7698–7702. doi:10.1073/pnas.89.16.7698
   PubMedGoogle Scholar
• Sakura H, Eto K, Kadowaki H, et al. Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus. J Clin Endocrinol Metab. 1992;75(6):1571–1573.
   PubMedGoogle Scholar
• Velho G, Blanche H, Vaxillaire M, et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997;40(2):217–224. doi:10.1007/s001250050666
   PubMed Web of Science ®Google Scholar
• Massa O, Meschi F, Cuesta-Munoz A, et al. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetologia. 2001;44(7):898–905. doi:10.1007/s001250100530
   PubMedGoogle Scholar
• Thomson KL, Gloyn AL, Colclough K, et al. Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat. 2003;22(5):417. doi:10.1002/humu.9186
   PubMedGoogle Scholar
• Cuesta-Munoz AL, Tuomi T, Cobo-Vuilleumier N, et al. Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). Diabetes Care. 2010;33(2):290–292. doi:10.2337/dc09-0681
   PubMed Web of Science ®Google Scholar
• Costantini S, Malerba G, Contreas G, et al. Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype. Clin Genet. 2015;87(5):440–447. doi:10.1111/cge.12406
   PubMedGoogle Scholar
• Carmody D, Naylor RN, Bell CD, et al. GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. Acta Diabetol. 2016;53(5):703–708. doi:10.1007/s00592-016-0859-8
   PubMedGoogle Scholar
• Wang Z, Diao C, Liu Y, et al. Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia. J Diabetes Investig. 2019;10(4):963–971. doi:10.1111/jdi.13001
   PubMedGoogle Scholar
• Bennett K, James C, Mutair A, Al-Shaikh H, Sinani A, Hussain K. Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. Pediatr Diabetes. 2011;12(3 Pt 1):192–196. doi:10.1111/j.1399-5448.2010.00683.x
   PubMedGoogle Scholar
• Raimondo A, Chakera AJ, Thomsen SK, et al. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet. 2014;23(24):6432–6440. doi:10.1093/hmg/ddu360
   PubMed Web of Science ®Google Scholar
• Gidh-Jain M, Takeda J, Xu LZ, et al. Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. Proc Natl Acad Sci U S A. 1993;90(5):1932–1936.
   PubMedGoogle Scholar
• Davis EA, Cuesta-Munoz A, Raoul M, et al. Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. Diabetologia. 1999;42(10):1175–1186. doi:10.1007/s001250051289
   PubMedGoogle Scholar
• Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K. ISPAD clinical practice consensus guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatr Diabetes. 2006;7(6):352–360. doi:10.1111/j.1399-5448.2006.00217.x
   PubMedGoogle Scholar
• Chen YZ, Gao Q, Zhao XZ, et al. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J. 2010;123(22):3326–3333.
   PubMedGoogle Scholar
• Madariaga L, Moriniere V, Jeanpierre C, et al. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin j Am Soc Nephrol. 2013;8(7):1179–1187. doi:10.2215/CJN.10221012
   PubMed Web of Science ®Google Scholar
• Ulinski T, Lescure S, Beaufils S, et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol. 2006;17(2):497–503. doi:10.1681/ASN.2005101040
   PubMedGoogle Scholar
• Juszczak A, Pavic T, Vuckovic F, et al. Plasma Fucosylated Glycans and C-Reactive protein as biomarkers of HNF1A-MODY in young adult-onset nonautoimmune diabetes. Diabetes Care. 2019;42(1):17–26. doi:10.2337/dc18-0422
   PubMed Web of Science ®Google Scholar
• Urakami T. Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment. Diabetes Metabol Syndr Obesity. 2019;12:1047–1056. doi:10.2147/DMSO.S179793
   PubMed Web of Science ®Google Scholar
• Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V. Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young. J Clin Endocrinol Metab. 2009;94(6):1959–1965. doi:10.1210/jc.2008-2371
   PubMed Web of Science ®Google Scholar
• Yorifuji T, Fujimaru R, Hosokawa Y, et al. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes. 2012;13(1):26–32. doi:10.1111/j.1399-5448.2011.00827.x
   PubMedGoogle Scholar
• Hwang JS, Shin CH, Yang SW, Jung SY, Huh N. Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients. Diabetes Res Clin Pract. 2006;74(1):75–81. doi:10.1016/j.diabres.2006.03.002
   PubMedGoogle Scholar
• Yu MG, Keenan HA, Shah HS, et al. Residual beta cell function and monogenic variants in long-duration type 1 diabetes patients. J Clin Invest. 2019;129(8):3252–3263. doi:10.1172/JCI127397
   PubMedGoogle Scholar
• Johansson BB, Irgens HU, Molnes J, et al. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 2017;60(4):625–635. doi:10.1007/s00125-016-4167-1
   PubMedGoogle Scholar