Genetics and clinical landscape of pediatric monogenic diabetes in consanguineous cohort: high diagnostic yield and recessive burden
Authors' conclusion
MDM in Saudi Arabia is characterized by a high burden of autosomal recessive forms, including neonatal and syndromic diabetes, reflecting population structure and consanguinity.
Study context
- Population
- Saudi patients with monogenic DM from 86 unrelated families; 52.6% male, consanguinity rate 81%86 unrelated families
- Participants
- 135 patients
- Outcome
- Molecular diagnosis (pathogenic/likely pathogenic) and genetic spectrum
Methodological detailsexome sequencing, consanguineous cohort, Variants classified according to ACMG guidelines
- Exome sequencing
- Consanguineous cohort
- Variants classified according to ACMG guidelines
Main finding
As reported in the abstract
- Molecular diagnosis (pathogenic/likely pathogenic), families
- 73%
- Variant of uncertain significance (VUS), families
- 15%
- MODY
- 33.3%
- Syndromic diabetes
- 27.4%
- Permanent neonatal diabetes
- 23.7%
- INSR
- 13%
- EIF2AK3
- 12%
- INS
- 11%
- GCK
- 11%
- Novel variants identified
- 7
Observational data: associations, not effects.
Original publication
Genetics and clinical landscape of pediatric monogenic diabetes in consanguineous cohort: high diagnostic yield and recessive burden. Diabetes Res Clin Pract. Published 17 July 2026. doi:10.
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