Profile of monogenic diabetes: a Pan-India study
Authors' conclusion
In this Pan India study, monogenic diabetes was confirmed in 15.5% of 774 individuals screened using predefined clinical criteria. Genetic testing in carefully phenotyped individuals with youth onset diabetes, could help to detect monogenic diabetes and offer precision treatment.
Study context
- Population
- Individuals clinically suspected of monogenic diabetes in India: age at diabetes diagnosis ≤30 years, family history of diabetes in one or both parents, BMI ≤ 30 kg/m², no ketonuria
- Participants
- 774 participants65 centres
- Outcome
- Frequency of monogenic diabetes mutations (pathogenic/likely pathogenic per ACMG and Association of Medical Pathology (AMP) guidelines)
Methodological detailsmulticentre, 65 diabetes centres across India
- Multicentre
- 65 diabetes centres across India
Main finding
As reported in the abstract
Prevalence of monogenic diabetes mutations
- Overall prevalence of monogenic diabetes mutations
- 15.5 % (120/774)
- Syndromic forms of monogenic diabetes
- 31 individuals
- Wolfram Syndrome
- n = 15
- Maternally Inherited Diabetes with Deafness
- n = 12
- H syndrome (histiocytosis lymphadenopathy plus syndrome)
- n = 4
Observational data: associations, not effects.
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Profile of monogenic diabetes: a Pan-India study. Diabetes Res Clin Pract. Published 2 June 2025. doi:10.
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