A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5.

ABSTRACT: We previously performed next-generation sequencing-based genetic screening in patients with autoantibody-negative type 1 diabetes, and identified the p.Leu168Pro mutation in HNF1B. Here,we report the clinical course of the patient and the results of functional characterization of this mutation. The proband had bilateral renal hypodysplasia and developed insulin-dependent diabetes during childhood. The pathogenicity of Leu168Pro-HNF1B was evaluated with three-dimensional structure modeling, Western blotting, immunofluorescence analysis and luciferase reporter assays using human embryonic kidney 293 cells. Three-dimensional structure modeling predicted that the Leu168 residue is buried in the DNA-binding Pit-Oct-Unc-specific (POU_S) domain and forms a hydrophobic core. Weste

SUBMITTER: Yoshida K 

PROVIDER: S-EPMC8481079 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature