Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene
Authors' conclusion
Molecular etiology was determined in 35 % cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study.
Study context
- Population
- Cases with clinical findings and family history of monogenic DM
- Participants
- 100 cases
- Outcome
- Molecular genetic basis of monogenic DM and novel candidate genes
Methodological detailstargeted Next Generation Sequencing (NGS) panel (14 genes), Whole Exome Sequencing (WES) in cases without variant
- Targeted NGS panel (14 genes)
- WES in cases without variant
Performance
As reported in the abstract
Disease-causing variants with targeted NGS
Cases with disease-causing variants (30 different variants in 7 genes)
35
35 %
GCK variant (most common)
25
25 %
ABCC8 variants (4 different)
4
4 %
Further findings
WES in NGS-negative cases
- WES performed
- 45 of 65 cases
- Heterozygous IFIH1 c.2635C > T(p.Gln879Ter) variant in a patient with incidental hyperglycemia; affected mother heterozygous for same variant
Original publication
Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene. Diabetes Res Clin Pract. Published 13 October 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →