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).Electronic supplementary materialThe online version of this article (10.1007/s13300-017-0350-8) contains supplementary material, which is available to authorized users.
Highlights
Diabetes mellitus (DM) with autosomal dominant inheritance, i.e., maturity-onset DM of the Diabetes Ther (2018) 9:413–420 young (MODY), is a heterogeneous group of diseases caused by gene mutations that resulting in pancreatic b-cell dysfunction [1,2,3,4]
Despite the significant variation in the prevalence of individual forms of the disease in different populations, mutations in the genes coding for hepatocyte nuclear factor 1a (HNF1A) and glucokinase (GCK) are dominant types of mutation associated with maturity-onset diabetes of the young (MODY), namely, subtypes MODY3 (MODYHNF1A) and MODY2 (MODY-GCK), respectively [11]
We describe a clinical case in a family with MODY-HNF1A associated with a novel mutation in HNF1A
Summary
Diabetes mellitus (DM) with autosomal dominant inheritance, i.e., maturity-onset DM of the Diabetes Ther (2018) 9:413–420 young (MODY), is a heterogeneous group of diseases caused by gene mutations that resulting in pancreatic b-cell dysfunction [1,2,3,4]. The grandmother took SU (gliclazide) medications in doses smaller than the average therapeutic ones, with good glycemic control, and died at the age of 91; her medical history included arterial hypertension and a repeated acute cerebrovascular disease The proband, her son, and her mother presented with dyslipidemia at a young age, and other relatives who had DM developed macrovascular complications at an advanced age. A total of 126 patients with the MODY phenotype (mean age 23.8 ± 2.6 years) underwent a full medical examination a some specified time between 2014 and 2017, including a biochemical blood test; determination of HbA1c, C-peptide, GAD, ICA, thyroid status, and microalbuminuria; abdominal and renal ultrasonography; real-time continuous glucose monitoring with Medtronic Paradigm MMT-722 (Meditronic, Dublin, Ireland); and genetic tests. Testing for the Ser6Arg substitution in the HNF1A gene yielded negative results in the population sample of HAPIEE, in the sample of 188 subjects with DM2, and among the 126 patients with a clinical pattern of MODY
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