Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric Maturity-onset Diabetes of the Young (MODY) Cases in Türkiye: Single Center Experience
Authors' conclusion
This study underscores the clinical and genetic heterogeneity of MODY in the pediatric population and reinforces the value of comprehensive NGS panels for accurate diagnosis, even in patients who do not fully meet classical MODY criteria. The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes. These findings highlight the importance of incorporating population-specific genomic data into clinical practice and of periodically re-evaluating gene-disease associations as new molecular and functional evidence emerges. Ultimately, the integration of molecular diagnostics into routine pediatric diabetes care will enhance diagnostic yield, optimize management, and improve long-term outcomes for affected families.
Study context
- Population
- Pediatric patients with suspected MODY (≥2 clinical features per 2022 International Society for Pediatric and Adolescent Diabetes (ISPAD) guidelines), followed 2022–2025, Türkiye
- Participants
- 81 patients
- Outcome
- Genetic findings (targeted next-generation sequencing (NGS) panel)
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
- Genetic variants identified (pathogenic, likely pathogenic and variants of uncertain significance (VUS))
- 25 of 81 (30.9%)
- Pathogenic or likely pathogenic variants; diagnostic yield
- 22; 27.2%
- GCK
- 72.0%
- HNF1A
- 8.0%
- Rare MODY subtypes collectively
- 20.0%
Observational data: associations, not effects.
Further findings
Novel GCK variants
- Novel GCK variants: c.1055T >C, c.1229A >C, c.185_186insA
- 3
Therapy adjustment after genetic analysis
- Patients with therapy adjustments based on identified variants
- 2
Syndromic 17q12 microdeletion
- Heterozygous 17q12 microdeletion encompassing HNF1B (≈1.5 Mb) with developmental delay, intellectual disability, epilepsy, dysmorphic features, persistent hypomagnesemia, bicornuate uterus, normal renal structure
- 1 patient
Original publication
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