Focusing on Rare Variants Related to Maturity‐Onset Diabetes of the Young in Children
Authors' conclusion
Genetic testing is helpful for the precise diagnosis and treatment of patients with MODY, including those with DKA history and positive diabetes autoantibody. GCK-MODY is the most common type of MODY, and patients with INS variant account for a relatively large proportion of MODY cases in our cohort.
Study context
- Population
- Children with persistent hyperglycaemia suspected of monogenic diabetes or diabetes syndrome, Shanghai Children's Medical Center, January 2015–December 202230 with maturity-onset diabetes of the young (MODY) variants
- Participants
- 175 children
- Outcome
- MODY subtypes among 30 patients with pathogenic/likely pathogenic variants
Methodological detailssingle-centre, next-generation sequencing, Candidate variants verified by Sanger sequencing; pathogenicity evaluated per ACMG guidelines
- Single-centre
- Next-generation sequencing
- Candidate variants verified by Sanger sequencing; pathogenicity evaluated per ACMG guidelines
Main finding
As reported in the abstract
- Patients with MODY-related pathogenic or likely pathogenic variants
- 30
- GCK-MODY
- 11 (36.7%)
- INS-MODY
- 6 (20%)
- HNF1A-MODY
- 5 (16.7%)
- ABCC8-MODY
- 5 (16.7%)
- HNF1B-MODY
- 2 (6.7%)
- HNF4A-MODY
- 1 (3.3%)
Observational data: associations, not effects.
Further findings
Variant types
- Shift variants
- 1
- Splice-site variants
- 7
- Novel variants
- 6
- Remaining variants missense
Clinical features of the 30 MODY patients
- Family history of diabetes
- 63.3%
- Diabetic ketoacidosis (DKA)
- 13.3%
- Positive diabetes-associated autoantibodies
- 16.7%
- INS variant phenotype similar to T1D
Treatment during follow-up
- ABCC8 variant patients unable to switch to oral SU therapy, continued insulin
- 4
- All patients, including autoantibody-positive, required long-term insulin therapy
Original publication
Focusing on Rare Variants Related to Maturity‐Onset Diabetes of the Young in Children. Pediatr Diabetes. Published 28 January 2025. doi:10.
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