Variants of the HNF4A and HNF1A genes in patients with impaired glucose metabolism and dyslipidemia

Maturity onset diabetes of the young is a dominantly inherited form monogenic diabetes, diagnosed mainly before age 35 years. Mutations in HNF1A and HNF4A genes are associated with mellitus HNF1A-MODY HNF4A-MODY subtypes, respectively. These two forms MODY characterized by dyslipidemia addition to impaired glucose metabolism due altered function proteins. The aim this study was genetic analysis patients phenotype burdened family history. Material methods . probands underwent targeted DNA sequencing using Illumina MiSeq NGS System. target panel included coding regions splicing sites MODY-associated genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, ABCC8, APPL1. Results A heterozygous single nucleotide deletion NM_000457.4: c.153del (3’rule) found proband P1 gene. In P2, NM_000545.8: c.335del (3 ‘rule) gene detected state. Both variants located parts genes, led shift reading frame have not been described literature databases earlier. Conclusions Taking into account phenotypic features probands, we assume that (rule 3) different subtypes these individuals. After verification MODY-HNF1A MODY-HNF4A diagnosis, it necessary monitor lipid profile parameters (total cholesterol, low high density lipoprotein triglycerides) prescribe appropriate drug therapy.