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. 2018 Feb;9(1):413-420.
doi: 10.1007/s13300-017-0350-8. Epub 2017 Dec 8.

A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family With a Novel HNF1A Gene Mutation in Five Generations

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A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family With a Novel HNF1A Gene Mutation in Five Generations

A K Ovsyannikova et al. Diabetes Ther. .
Free PMC article

Abstract

Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members. The mutation was not detected in MODY patients (126 subjects), in patients with type 2 diabetes mellitus (188 subjects), and in a general population sample (564 subjects).

Keywords: Family history; HNF1A; Hyperglycemia; Insulin; MODY3; Maturity onset diabetes of the young.

Figures

Fig. 1
Fig. 1
a Family history and the novel variant of the gene encoding hepatocyte nuclear factor 1α (HNF1a) in a family with inherited diabetes mellitus (DM). Asterisk indicates medically examined HNF1a Ser6Arg mutation carriers. b Conserved amino acid sequence of the HNF1a gene among various species. c Sequence with amino acid substitution

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References

    1. Lachanse CH. Practical aspects of monogenic diabetes: a clinical point of view. Can J Diabetes. 2016;40:368–75. doi: 10.1016/j.jcjd.2015.11.004. - DOI - PubMed
    1. Rubio-Cabezas O, Hattersley AT, Njolstad PR, et al. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2014;15(20):47–64. doi: 10.1111/pedi.12192. - DOI - PubMed
    1. Fajans SS, Bell GI. MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011;34(8):1878–1884. doi: 10.2337/dc11-0035. - DOI - PMC - PubMed
    1. Stanik J, Dusatkova P, Cinek O, et al. De novo mutations of GCK, HNF1a and HNF 4a may be more frequent in MODY than previously assumed. Diabetologia. 2014;57:480–484. doi: 10.1007/s00125-013-3119-2. - DOI - PubMed
    1. Voevoda MI, Ivanova AA, Shakhtshneider EV, et al. Molecular genetics of maturity-onset diabetes of the young. Ther Arch. 2016;88(4):117–124. - PubMed

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