Summary
Monogenic diabetes encompasses neonatal diabetes, mature-onset diabetes of the young (MODY), and other syndromic presentations. Most multigene panel testing historically performed for this indication has not included analysis of disease-associated noncoding regions or the mitochondrial genome (mtDNA). To further investigate the utility of including noncoding targets and mtDNA as part of multi-gene panel testing, we performed a retrospective analysis of results from 507 patients who received Blueprint Genetics’ Monogenic Diabetes Panel or MODY Panel. Key findings include
- Almost 25% of patients received a positive result across 11 genes
- One positive result was a likely pathogenic, non-coding variant in the INS gene
- The pathogenic MT-TL1 m.3243A>G mitochondrial variant, associated with maternally inherited diabetes and deafness (MIDD) syndrome, was identified in ~5% (6/126) of patients with positive findings
Analysis of noncoding and mtDNA variants as part of multi-gene panel testing identified positive results for ~1 in 20 patients with suspected monogenic diabetes.
Authors:
Alicia Scocchia, Kimberly Gall, Julie Hathaway, Elvira Zilliacus, Allison Sluyters, Archie Taylor, Johanna Huusko, Manuel Bernal, Johanna Känsäkoski, Pernilla von Nandelstadh, Johanna Tommiska, Inka Saarinen, Matias Rantanen, Jennifer Schleit, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo