Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients

Yang YS, Kwak SH, Park KS. Update on monogenic diabetes in Korea. Diabetes Metab J. 2020;44(5):627–39. https://doi.org/10.4093/dmj.2020.0214.

Article  PubMed  PubMed Central  Google Scholar 

Greeley SAW, Polak M, Njølstad PR, Barbetti F, Williams R, Castano L, Raile K, Chi DV, Habeb A, Hattersley AT, Codner E. ISPAD Clinical Practice Consensus Guidelines 2022: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2022;23(8):1188–211. https://doi.org/10.1111/pedi.13426.

Article  PubMed  PubMed Central  Google Scholar 

De Franco E. From Biology to genes and back again: Gene Discovery for monogenic forms of Beta-cell dysfunction in diabetes. J Mol Biol. 2020;432(5):1535–50. https://doi.org/10.1016/j.jmb.2019.08.016.

Article  CAS  PubMed  Google Scholar 

De Franco E, Flanagan SE, Houghton JA, Lango Allen H, Mackay DJ, Temple IK, Ellard S, Hattersley AT. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet. 2015;386(9997):957–63. https://doi.org/10.1016/S0140-6736(15)60098-8.

Article  PubMed  PubMed Central  Google Scholar 

Peixoto-Barbosa R, Reis AF, Giuffrida FMA. Update on clinical screening of maturity-onset diabetes of the young (MODY). Diabetol Metab Syndr. 2020;12:50. https://doi.org/10.1186/s13098-020-00557-9. PMID: 32528556; PMCID: PMC7282127.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McDonald TJ, Ellard S. Maturity onset diabetes of the young: identification and diagnosis. Ann Clin Biochem. 2013;50(Pt5):403–15. https://doi.org/10.1177/0004563213483458.

Article  PubMed  Google Scholar 

Breidbart E, Deng L, Lanzano P, Fan X, Guo J, Leibel RL, LeDuc CA, Chung WK. Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry. J Pediatr Endocrinol Metab. 2021;34(5):633–8. https://doi.org/10.1515/jpem-2020-0501. PMID: 33852230; PMCID: PMC8970616.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM, Geisinger-Regeneron DEHR, Frayling C, Hattersley TF, Carey AT, Weedon DJ, Patel MN. Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. Am J Hum Genet. 2022;109(11):2018–28. Epub 2022 Oct 17. PMID: 36257325; PMCID: PMC9674944.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Małachowska B, Borowiec M, Antosik K, Michalak A, Baranowska-Jaźwiecka A, Deja G, Jarosz-Chobot P, Brandt A, Myśliwiec M, Stelmach M, Nazim J, Peczyńska J, Głowińska-Olszewska B, Horodnicka-Józwa A, Walczak M, Małecki MT, Zmysłowska A, Szadkowska A, Fendler W, Młynarski W. Monogenic diabetes prevalence among polish children-summary of 11 years-long nationwide genetic screening program. Pediatr Diabetes. 2018;19(1):53–8. https://doi.org/10.1111/pedi.12532. Epub 2017 Apr 24. PMID: 28436179.

Article  PubMed  Google Scholar 

Zmysłowska A, Jakiel P, Gadzalska K, Majos A, Płoszaj T, Ben-Skowronek I, Deja G, Glowinska-Olszewska B, Jarosz-Chobot P, Klonowska B, Kowalska I, Mlynarski W, Mysliwiec M, Nazim J, Noczynska A, Robak-Kontna K, Skala-Zamorowska E, Skowronska B, Szadkowska A, Szypowska A, Walczak M, Borowiec M. Next- generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes. Diabetes Res Clin Pract. 2022;183:109154. https://doi.org/10.1016/j.diabres.2021.109154.

Article  CAS  PubMed  Google Scholar 

Donath X, Saint-Martin C, Dubois-Laforgue D, Rajasingham R, Mifsud F, Ciangura C, Timsit J, Bellanné-Chantelot C. Monogenic diabetes Study Group of the Société Francophone du Diabète. Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis. BMC Med. 2019;17(1):132. https://doi.org/10.1186/s12916-019-1363-0. PMID: 31291970; PMCID: PMC6621990.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Glotov OS, Serebryakova EA, Turkunova ME, Efimova OA, Glotov AS, Barbitoff YA, Nasykhova YA, Predeus AV, Polev DE, Fedyakov MA, Polyakova IV, Ivashchenko TE, Shved NY, Shabanova ES, Tiselko AV, Romanova OV, Sarana AM, Pendina AA, Scherbak SG, Musina EV, Petrovskaia-Kaminskaia AV, Lonishin LR, Ditkovskaya LV, Zhelenina LА, Tyrtova LV, Berseneva OS, Skitchenko RK, Suspitsin EN, Bashnina EB, Baranov VS. Whole exome sequencing in russian children with non type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY related and unrelated genes. Mol Med Rep. 2019;20(6):4905–14. Epub 2019 Oct 16. PMID: 31638168; PMCID: PMC6854535.

CAS  PubMed  PubMed Central  Google Scholar 

Stankute I, Verkauskiene R, Blouin JL, Klee P, Dobrovolskiene R, Danyte E, Dirlewanger M, Santoni F, Razanskaite-Virbickiene D, Marciulionyte D, Jasinskiene E, Mockeviciene G, Schwitzgebel VM. 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. Diabetes. 2020;69(5):1065–71. https://doi.org/10.2337/db19-0974. Epub 2020 Feb 21. PMID: 32086287.

Article  CAS  PubMed  Google Scholar 

Bennett JT, Vasta V, Zhang M, Narayanan J, Gerrits P, Hahn SH. Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. Mol Genet Metab. 2015;114(3):451–8. https://doi.org/10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20. PMID: 25555642; PMCID: PMC7852340.

Article  CAS  PubMed  Google Scholar 

Brahm AJ, Wang G, Wang J, McIntyre AD, Cao H, Ban MR, Hegele RA. Genetic confirmation rate in clinically suspected maturity-onset diabetes of the Young. Can J Diabetes. 2016;40(6):555–60. https://doi.org/10.1016/j.jcjd.2016.05.010. Epub 2016 Sep 12. PMID: 27634015.

Article  PubMed  Google Scholar 

Hohendorff J, Kwiatkowska M, Pisarczyk-Wiza D, Ludwig-Słomczyńska A, Milcarek M, Kapusta P, Zapała B, Kieć-Wilk B, Trznadel-Morawska I, Szopa M, Zozulińska-Ziółkiewicz D, Małecki MT. Mutation search within monogenic diabetes genes in polish patients with long-term type 1 diabetes and preserved kidney function. Pol Arch Intern Med. 2022;132(2):16143. https://doi.org/10.20452/pamw.16143. Epub 2021 Nov 26. PMID: 34825797.

Article  PubMed  Google Scholar 

Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njølstad PR. Exome sequencing and genetic testing for MODY. PLoS ONE. 2012;7(5):e38050. https://doi.org/10.1371/journal.pone.0038050.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yalçın Çapan Ö, Aydın N, Yılmaz T, Berber E. Whole exome sequencing reveals novel candidate gene variants for MODY. Clin Chim Acta. 2020;510:97–104. https://doi.org/10.1016/j.cca.2020.07.005. Epub 2020 Jul 6. PMID: 32645390.

Article  CAS  PubMed  Google Scholar 

Płoszaj T, Antosik K, Jakiel P, Zmysłowska A, Borowiec M. Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing. Endocrine. 2021;73(3):752–7. https://doi.org/10.1007/s12020-021-02753-7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang L, Zhang Z, Wang D, Jiang Y, Liu Y. Targeting mTOR Signaling in type 2 diabetes Mellitus and Diabetes Complications. Curr Drug Targets. 2022;23(7):692–710. https://doi.org/10.2174/1389450123666220111115528.

Article  CAS  PubMed  Google Scholar 

Binsch C, Barbosa DM, Hansen-Dille G, Hubert M, Hodge SM, Kolasa M, Jeruschke K, Weiß J, Springer C, Gorressen S, Fischer JW, Lienhard M, Herwig R, Börno S, Timmermann B, Cremer AL, Backes H, Chadt A, Al-Hasani H. Deletion of Tbc1d4/As160 abrogates cardiac glucose uptake and increases myocardial damage after ischemia/reperfusion. Cardiovasc Diabetol. 2023;22(1):17. https://doi.org/10.1186/s12933-023-01746-2.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Trombetta M, Bonetti S, Boselli M, Turrini F, Malerba G, Trabetti E, Pignatti P, Bonora E, Bonadonna RC. CACNA1E variants affect beta cell function in patients with newly diagnosed type 2 diabetes. The Verona newly diagnosed type 2 diabetes study (VNDS) 3. PLoS ONE. 2012;7(3):e32755. https://doi.org/10.1371/journal.pone.0032755.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aly HH, De Franco E, Flanagan SE, Elhenawy YI. MNX1 mutations causing neonatal diabetes: review of the literature and report of a case with extra-pancreatic congenital defects presenting in severe diabetic ketoacidosis. J Diabetes Investig. 2022 Dec;31. https://doi.org/10.1111/jdi.13968.

Sun C, Pei Z, Zhang M, Sun B, Yang L, Zhao Z, Cheng R, Luo F. Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. J Diabetes. 2018;10(1):50–8. https://doi.org/10.1111/1753-0407.12556. Epub 2017 May 29. PMID: 28371426.

Article  CAS  PubMed  Google Scholar 

Yang JK, Lu J, Yuan SS, Asan, Cao X, Qiu HY, Shi TT, Yang FY, Li Q, Liu CP, Wu Q, Wang YH, Huang HX, Kayoumu A, Feng JP, Xie RR, Zhu XR, Liu C, Yang GR, Zhang MR, Xie CL, Chen C, Zhang B, Liu G, Zhang XQ, Xu A. From hyper- to Hypoinsulinemia and Diabetes: Effect of KCNH6 on insulin secretion. Cell Rep. 2018;25(13):3800–3810e6. https://doi.org/10.1016/j.celrep.2018.

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. 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. 2015;17(5):405–24. https://doi.org/10.1038/gim.2015.30.

Article  PubMed  PubMed Central  Google Scholar 

Yalçın Çapan Ö, Aydın N, Yılmaz T, Berber E. Whole exome sequencing reveals novel candidate gene variants for MODY. Clin Chim Acta. 2020;510:97–104. https://doi.org/10.1016/j.cca.2020.07.005.

Article  CAS  PubMed  Google Scholar 

Asahara SI, Inoue H, Watanabe H, Kido Y. Roles of mTOR in the regulation of pancreatic β-Cell Mass and insulin secretion. Biomolecules. 2022;12(5):614. https://doi.org/10.3390/biom12050614. PMID: 35625542; PMCID: PMC9138643.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Laplante M, Sabatini DM. mTOR signaling in growth control and disease. Cell. 2012;149(2):274–93. https://doi.org/10.1016/j.cell.2012.03.017.

Article  CAS  PubMed  PubMed Central 

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