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Introduction
Diabetes mellitus (DM) with autosomal dominant inheritance, i.e., maturity-onset DM of the young (MODY), is a heterogeneous group of diseases caused by gene mutations that resulting in pancreatic β-cell dysfunction [1, 2, 3–4]. Verification of MODY allows for successful patient management, ensuring a healthy pregnancy and provision of genetic counseling to families [5–7]. Examination of relatives of MODY probands makes it possible to diagnose hyperglycemia in the preclinical phase.
To date, 14 genes have been identified to be associated with MODY. Mutations in each of these genes lead to the development of different MODY subtypes, differing in population distribution, in clinical features, and in management strategies [1, 8, 9–10]. 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 1α (HNF1A) and glucokinase (GCK) are dominant types of mutation associated with MODY, namely, subtypes MODY3 (MODY-HNF1A) and MODY2 (MODY-GCK), respectively [11]. These subtypes account for up to 90% of all MODY cases [12]. In the UK, the Netherlands, and Denmark, the most common form of monogenic diabetes is MODY-HNF1A, whereas in Spain, Italy, France, Germany, and the Czech Republic, MODY-GCK prevails [13]. In Russia, the incidence of MODY-GCK and MODY-HNF1A is approximately equal [14].
In this report, we describe a clinical case in a family with MODY-HNF1A associated with a novel mutation in HNF1A.
Case Description
A 50-year-old woman with DM has been regularly visiting our department and her condition closely monitored. During the initial examination in September 2015, she complained of a burning sensation in the legs during the day, periodic headaches, and fatigue.
At the age of 12 years, symptoms of dry mouth and weakness appeared following the consumption of large amounts of carbohydrate-containing foods. These complaints lasted for approximately 2 months. During a routine medical check-up, the girl received a diagnosis of fasting (7 mmol/L) and postprandial hyperglycemia (11 mmol/L) and glycosuria; she did not have excess body weight, and there was no ketosis or ketoacidosis. Her weight and height corresponded to her age, and there were no signs of insulin resistance, such as acanthosis nigricans. Concomitant pathology and cardiovascular diseases were absent. Autoimmune processes were not detected, and antibodies to B cells...