Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.

ABSTRACT:

Background

HNF1A is an essential component of the transcription factor network that controls pancreatic β-cell differentiation, maintenance, and glucose stimulated insulin secretion (GSIS). A continuum of protein malfunction is caused by variations in the HNF1A gene, from severe loss-of-function (LOF) variants that cause the highly penetrant Maturity Onset Diabetes of the Young (MODY) to milder LOF variants that are far less penetrant but impart a population-wide risk of type 2 diabetes that is up to five times higher. Before classifying and reporting the discovered variations as relevant in clinical diagnosis, a critical review is required. Functional investigations offer substantial support for classifying a variant as pathogenic, or otherwise as advised by the Amer

SUBMITTER: Kavitha B 

PROVIDER: S-EPMC10313120 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature