Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.

ABSTRACT:

Background

To improve the precision of molecular diagnosis by means of a comprehensive bidirectional phenotypic and genotypic reanalysis in cases of unresolved monogenic diabetes previously investigated using a targeted next-generation sequencing (tNGS) panel.

Methods

Molecular and clinical data from 128 unresolved cases referred between 2011 and 2019 were analyzed. These included 92 cases of suspected maturity-onset diabetes of the young (MODY), 12 of neonatal diabetes, 16 of familial partial lipodystrophy (FPLD), 7 of mitochondrial diabetes, and 1 of Wolfram syndrome. All cases were initially investigated using a tNGS panel consisting of 51 nuclear genes and the complete mitochondrial genome.

Results

This extensive reanalysis process increases molecular diagnosis fr

SUBMITTER: Franco PC 

PROVIDER: S-EPMC12552679 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature