Maturity onset diabetes of the young (MODY)

Definition:

Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause most of the MODY cases.

References:

[1]. Amélie Bonnefond, et al. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS One. 2012;7(6):e37423. [Content Brief]

[2]. Bernadette Neve, et al. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4807-12. [Content Brief]

[3]. D A Stoffers, et al. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet. 1997 Oct;17(2):138-9. [Content Brief]

[4]. Gilberto Velho, et al. Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics. Horm Res. 2002;57 Suppl 1:29-33. [Content Brief]

[5]. Helge Raeder, et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet. 2006 Jan;38(1):54-62. [Content Brief]

[6]. K Yamagata, et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature. 1996 Dec 5;384(6608):455-8. [Content Brief]

[7]. K Yamagata, et al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature. 1996 Dec 5;384(6608):458-60. [Content Brief]

[8]. M T Malecki, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet. 1999 Nov;23(3):323-8. [Content Brief]

[9]. Maciej Borowiec, et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14460-5. [Content Brief]

[10]. Martine Vaxillaire, et al. Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev. 2008 May;29(3):254-64. [Content Brief]

[11]. N Vionnet, et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992 Apr 23;356(6371):721-2. [Content Brief]

[12]. Nattachet Plengvidhya, et al. PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab. 2007 Jul;92(7):2821-6. [Content Brief]

[13]. Sabrina Prudente, et al. Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. Am J Hum Genet. 2015 Jul 2;97(1):177-85. [Content Brief]

[14]. Trine W Boesgaard, et al. Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). BMC Med Genet. 2010 Mar 12;11:42. [Content Brief]

[15]. Y Horikawa, et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997 Dec;17(4):384-5. [Content Brief]

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