Searching for Monogenic Autoimmune Etiology in Patients With Type 1 Diabetes Onset Before 30 Months of Age
Authors' conclusion
T1D onset in the first year of life may indicate monogenic autoimmune diabetes and molecular testing may be recommended.
Study context
- Population
- Spanish pediatric patients with T1D onset between 9 and 30 months of age, selected from 500 pediatric patients with T1Dfrom 500 with T1D
- Participants
- 44 patients
- Outcome
- Monogenic autoimmune diabetes (variants in AIRE, CTLA4, FOXP3, IL2RA, ITCH, LRBA, STAT1, STAT3, STAT5B)
Methodological detailsnext-generation sequencing with customized panel, RNA splicing analysis (RT-PCR and cDNA sequencing)
- Next-generation sequencing with customized panel
- RNA splicing analysis (RT-PCR and cDNA sequencing)
Main finding
As reported in the abstract
Likely pathogenic novel variants
Patients with likely pathogenic novel splicing variants, both with diabetes onset before 1 year of age
2
STAT5B variant
c.286-12_290del
FOXP3 variant
c.-22-2delA
Original publication
Searching for Monogenic Autoimmune Etiology in Patients With Type 1 Diabetes Onset Before 30 Months of Age. J Clin Endocrinol Metab. Published 28 January 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →