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Updated: Jun 22, 2025

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
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VARIATIONS IN MONOGENIC DIABETES AND DIABETES SUSCEPTIBILITY GENES IN PEDIATRIC CASES: SINGLE CENTER EXPERIENCE

I Arslanoğlu1, R Eröz2, F Yavuzyılmaz1

  • 1Duzce University Medical School - Department of Pediatric Endocrinology, Duzce.

Acta Endocrinologica (Bucharest, Romania : 2005)
|June 27, 2024
PubMed

Insights

Genetic testing in children with diabetes identified 110 variants in 89 patients, revealing 30 novel mutations. This highlights the importance of genetic analysis for understanding pediatric diabetes subtypes.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Diabetes Research

Background:

  • Diabetes mellitus is a complex chronic condition with diverse etiologies, including genetic factors.
  • Understanding the genetic basis of pediatric diabetes is crucial for accurate diagnosis and management.
  • Large cohorts are essential for identifying genetic variants and their clinical significance.

Observation:

  • This study retrospectively analyzed genetic and clinical data from a large pediatric diabetes cohort.
  • Genetic testing was performed on 246 children diagnosed with diabetes before age 18.
  • Of those tested, 110 diabetes-related variants were identified in 89 children, including 30 novel mutations.

Findings:

  • The most frequently affected genes were GCK (26.6%) and ABCC8 (10%).
  • Pathogenic or likely pathogenic variants were found in 49 cases, and 11 variants of unknown significance were identified.
  • Antibody testing was negative in 80% of cases, suggesting a genetic origin.

Implications:

  • Genetic interpretation in selected pediatric diabetes cases enhances disease understanding.
  • Increased genetic testing accessibility and awareness may reveal a higher prevalence of genetically explained diabetes.
  • Recognizing genetic subtypes is vital, as their distribution varies geographically.
Abstract

Keywords:
childgeneticsmaturity-onset diabetes of the youngmonogenic diabetesnext-generation sequencing

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