Monogenic diabetes

Riddle, M. C. et al. Monogenic diabetes: from genetic insights to population-based precision in care. reflections from a diabetes care editors’ expert forum. Diabetes Care 43, 3117–3128 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Froguel, P. et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356, 162–164 (1992).

Article  CAS  PubMed  Google Scholar 

Vionnet, N. et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356, 721–722 (1992). Study identifying pathogenic mutations in GCK as leading to one of the most prevalent forms of monogenic diabetes.

Article  CAS  PubMed  Google Scholar 

American Diabetes Association Professional Practice Committee. 2. Classification and diagnosis of diabetes: standards of medical care in diabetes — 2022. Diabetes Care 45 (Suppl. 1), S17–S38 (2022).

Article  Google Scholar 

Bonnefond, A. et al. Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. Nat. Metab. 2, 1126–1134 (2020). A study that highlights the incomplete penetrance of pathogenic mutations in monogenic diabetes genes, which are even found in patients with suspected typical T2DM.

Article  CAS  PubMed  Google Scholar 

Ahlqvist, E. et al. Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables. Lancet Diabetes Endocrinol. 6, 361–369 (2018).

Article  PubMed  Google Scholar 

Bonnefond, A. & Froguel, P. Clustering for a better prediction of type 2 diabetes mellitus. Nat. Rev. Endocrinol. 17, 193–194 (2021).

Article  PubMed  Google Scholar 

Yang, Y. & Chan, L. Monogenic diabetes: what it teaches us on the common forms of type 1 and type 2 diabetes. Endocr. Rev. 37, 190–222 (2016).

Article  PubMed  PubMed Central  Google Scholar 

Vaxillaire, M., Froguel, P. & Bonnefond, A. How recent advances in genomics improve precision diagnosis and personalized care of maturity-onset diabetes of the young. Curr. Diabetes Rep. 19, 79 (2019).

Article  Google Scholar 

Shields, B. M. et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53, 2504–2508 (2010).

Article  CAS  PubMed  Google Scholar 

Donath, X. et al. 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. 17, 132 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Vaxillaire, M. et al. Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries. Diabetes Res. Clin. Pract. 171, 108553 (2021).

Article  CAS  PubMed  Google Scholar 

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

Article  PubMed  PubMed Central  Google Scholar 

Park, S. S. et al. Identifying pathogenic variants of monogenic diabetes using targeted panel sequencing in an East Asian population. J. Clin. Endocrinol. Metab. https://doi.org/10.1210/jc.2018-02397 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Breidbart, E. et al. Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry. J. Pediatr. Endocrinol. Metab. 34, 633–638 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pezzilli, S. et al. Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes. Acta Diabetol. 59, 747–750 (2022).

Article  CAS  PubMed  Google Scholar 

Flannick, J. et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat. Genet. 45, 1380–1385 (2013).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mirshahi, U. L. et al. Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. Am. J. Hum. Genet. 109, 2018–2028 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Da Silva Xavier, G. The cells of the islets of Langerhans. J. Clin. Med. 7, E54 (2018).

Article  Google Scholar 

Yamagata, K. et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384, 455–458 (1996). Study identifying pathogenic mutations in HNF1A as leading to one of the most prevalent forms of monogenic diabetes.

Article  CAS  PubMed  Google Scholar 

Yamagata, K. et al. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature 384, 458–460 (1996).

Article  CAS  PubMed  Google Scholar 

Raeder, H. et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat. Genet. 38, 54–62 (2006).

Article  CAS  PubMed  Google Scholar 

Malikova, J. et al. Functional analyses of HNF1A-MODY variants refine the interpretation of identified sequence variants. J. Clin. Endocrinol. Metab. 105, dgaa051 (2020).

Article  PubMed  Google Scholar 

Li, L.-M., Jiang, B.-G. & Sun, L.-L. HNF1A: from monogenic diabetes to type 2 diabetes and gestational diabetes mellitus. Front. Endocrinol. 13, 829565 (2022).

Article  Google Scholar 

Bonnefond, A. et al. GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. Diabetologia 55, 2845–2847 (2012).

Article  CAS  PubMed  Google Scholar 

Jonsson, J., Carlsson, L., Edlund, T. & Edlund, H. Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371, 606–609 (1994).

Article  CAS  PubMed  Google Scholar 

Duque, M., Amorim, J. P. & Bessa, J. Ptf1a function and transcriptional cis-regulation, a cornerstone in vertebrate pancreas development. FEBS J. 289, 5121–5136 (2022).

Article  CAS  PubMed  Google Scholar 

Tiyaboonchai, A. et al. GATA6 plays an important role in the induction of human definitive endoderm, development of the pancreas, and functionality of pancreatic β cells. Stem Cell Rep. 8, 589–604 (2017).

Article  CAS  Google Scholar 

Rouzier, C. et al. A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. Hum. Mol. Genet. 26, 1599–1611 (2017).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shrestha, N., De Franco, E., Arvan, P. & Cnop, M. Pathological β-cell endoplasmic reticulum stress in type 2 diabetes: current evidence. Front. Endocrinol. 12, 650158 (2021).

Article  Google Scholar 

Graff, S. M. et al. A KCNK16 mutation causing TALK-1 gain-of-function is associated with maturity-onset diabetes of the young. JCI Insight 6, e138057 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Santer, R. et al. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat. Genet. 17, 324–326 (1997).

Article  CAS  PubMed  Google Scholar 

Labay, V. et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat. Genet. 22, 300–304 (1999).

Article  CAS  PubMed  Google Scholar 

Jungtrakoon, P. et al. Loss-of-function mutation in thiamine transporter 1 in a family with autosomal dominant diabetes. Diabetes 68, 1084–1093 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mancuso, M. et al. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J. Neurol. 261, 504–510 (2014).

Article  CAS  PubMed  Google Scholar 

Pickett, S. J. et al. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: the role of nuclear factors. Ann. Clin. Transl. Neurol. 5, 333–345 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vaxillaire, M. & Froguel, P. Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr. Rev. 29, 254–264 (2008).

Article  CAS  PubMed  Google Scholar 

Raimondo, A. 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. 23, 6432–6440 (2014).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rees, M. G. et al. A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease. PLoS ONE 9, e89335 (2014).

留言 (0)

沒有登入
gif