The HNF1B mutations and deletion associated with diabetes and their resulting diabetic phenotypes: a systematic review

Shields BM, Hicks S, Shepherd MH, et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia. 2010;53:2504–8.

Article  CAS  PubMed  Google Scholar 

Bach I, Mattei MG, Cereghini S, et al. Two members of an HNF1 homeoprotein family are expressed in human liver. Nucleic Acids Res. 1991;19:3553–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen Y-Z, Gao Q, Zhao X-Z, 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;123:3326–33.

CAS  PubMed  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;17:497–503.

Article  CAS  PubMed  Google 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. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Wu HX, Li L, Zhang H, et al. Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes. Endocrine. 2021;73:37–46.

Article  CAS  PubMed  Google Scholar 

Patouni K, Cinek O, Pruhova S, et al. A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes. Eur J Med Genet. 2021;64: 104264.

Article  CAS  PubMed  Google Scholar 

Motyka R, Kołbuc M, Wierzchołowski W, et al. Four cases of maturity onset diabetes of the young (MODY) type 5 associated with mutations in the hepatocyte nuclear factor 1 beta (HNF1B) gene presenting in a 13-year-old boy and in adult men aged 33, 34, and 35 years in Poland. Am J Case Rep. 2021;22: e928994.

PubMed  PubMed Central  Google Scholar 

Terakawa A, Chujo D, Yasuda K, et al. Maturity-onset diabetes of the young type 5 treated with the glucagon-like peptide-1 receptor agonist: a case report. Medicine. 2020;99: e21939.

Article  PubMed  PubMed Central  Google Scholar 

Tao T, Yang Y, Hu Z. A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: a pedigree-based case report. Medicine. 2020;99(31):e21438.

Article  PubMed  PubMed Central  Google Scholar 

Mateus JC, Rivera C, O’Meara M, et al. Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review. Clin Diabetes Endocrinol. 2020;6:16.

Article  PubMed  PubMed Central  Google Scholar 

Lim SH, Kim JH, Han KH, et al. Genotype and phenotype analyses in pediatric patients with HNF1B mutations. J Clin Med. 2020;9(7):2320.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Du T, Zeng N, Wen X, et al. A rare combination of MODY5 and duodenal atresia in a patient: a case report. BMC Med Genet. 2020;21:24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Berberich AJ, Wang J, Cao H, et al. Simplifying detection of copy-number variations in maturity-onset diabetes of the young. Can J Diabetes. 2021;45(1):71–7.

Article  PubMed  Google Scholar 

Wang T, Li Q, Shang S, et al. Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology. Mol Genet Genomic Med. 2019;7: e720.

Article  PubMed  PubMed Central  Google Scholar 

Roca-Rodríguez MDM, Ayala-Ortega MC, Jiménez-Millán AI, et al. Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes. Med Clin. 2019;152:19–21.

Article  Google Scholar 

Omura Y, Yagi K, Honoki H, et al. Clinical manifestations of a sporadic maturity-onset diabetes of the young (MODY) 5 with a whole deletion of HNF1B based on 17q12 microdeletion. Endocr J. 2019;66:1113–6.

Article  PubMed  Google Scholar 

Ohara Y, Okada Y, Yamada T, et al. Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5. J Diabetes Investig. 2019;10:1112–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nagano C, Morisada N, Nozu K, et al. Clinical characteristics of HNF1B-related disorders in a Japanese population. Clin Exp Nephrol. 2019;23:1119–29.

Article  CAS  PubMed  Google Scholar 

Li HJ, Groden C, Hoenig MP, et al. Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B. BMC Nephrol. 2019;20:353.

Article  PubMed  PubMed Central  Google Scholar 

Mohan V, Radha V, Nguyen TT, et al. Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India. BMC Med Genet. 2018;19:22.

Article  PubMed  PubMed Central  Google Scholar 

Deng M, Wang X, Xiao X, et al. Maturity-onset diabetes of the young type 5 uncovered during pregnancy with a long-term diagnosis of type 1 diabetes. J Diabetes Investig. 2019;10:1590–2.

Article  PubMed  PubMed Central  Google Scholar 

Connaughton DM, Kennedy C, Shril S, et al. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019;95:914–28.

Article  PubMed  PubMed Central  Google Scholar 

Ushijima K, Fukami M, Ayabe T, et al. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. 2018;19:243–50.

Article  CAS  PubMed  Google Scholar 

Roehlen N, Hilger H, Stock F, et al. 17q12 deletion syndrome as a rare cause for diabetes mellitus type MODY5. J Clin Endocrinol Metab. 2018;103:3601–10.

Article  PubMed  Google Scholar 

Ozsu E, Cizmecioglu FM, Yesiltepe Mutlu G, et al. Maturity onset diabetes of the young due to glucokinase, HNF1-A, HNF1-B, and HNF4-A mutations in a cohort of turkish children diagnosed as type 1 diabetes mellitus. Horm Res Paediatr. 2018;90:257–65.

Article  CAS  PubMed  Google Scholar 

Kato T, Tanaka D, Muro S, et al. A novel p.L145Q mutation in the HNF1B gene in a case of maturity-onset diabetes of the young type 5 (MODY5). Int Med (Tokyo, Japan). 2018;57:2035–9.

Article  CAS  Google Scholar 

Kamath A, Linden SC, Evans FM, et al. Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes. Am J Med Genet B Neuropsychiatr Genet. 2018;177:520–8.

Article  CAS  PubMed  Google Scholar 

Clissold RL, Fulford J, Hudson M, et al. Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic. Clin Kidney J. 2018;11:453–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang F, Yao Y, Yang HX, et al. Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease. Zhonghua Er Ke Za Zhi. 2017;55:658–62.

CAS  PubMed  Google Scholar 

Mikuscheva A, McKenzie E, Mekhail A. 21-year-old pregnant woman with MODY-5 diabetes. Case Rep Obstet Gynecol. 2017;2017:6431531.

PubMed  PubMed Central  Google Scholar 

Lv Y, Li Z, He K, et al. A novel mutation in the hepatocyte nuclear factor-1β gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: a case report. Exp Ther Med. 2017;14:3131–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Luo Y, Dai Z, Li L, et al. Hepatocyte nuclear factor 1β maturity-onset diabetes of the young in a Chinese child presenting with hyperglycemic hyperosmolar state. Acta Diabetol. 2017;54:969–73.

Article  PubMed  Google Scholar 

Kettunen JLT, Parviainen H, Miettinen PJ, et al. Biliary anomalies in patients with HNF1B diabetes. J Clin Endocrinol Metab. 2017;102:2075–82.

Article  PubMed  Google Scholar 

Bansal V, Gassenhuber J, Phillips T, et al. Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC Med. 2017;15:213.

Article  PubMed  PubMed Central  Google Scholar 

Shepherd M, Shields B, Hammersley S, et al. Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes. Diabetes care. 2016;39:1879–88.

Article  CAS  PubMed  Google Scholar 

Sens F, Bacchetta J, Rabeyrin M, et al. Efficacy of extracorporeal albumin dialysis for acute kidney injury due to cholestatic jaundice nephrotoxicity. BMJ case reports. 2016;2016:bcr2015213257.

Kanda S, Morisada N, Kaneko N, et al. New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation. Pediatr Transplant. 2016;20:467–71.

Article  CAS  PubMed 

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