Profile of monogenic diabetes: a Pan-India study

Area of Science:

• Endocrinology
• Genetics
• Diabetes Research

Background:

• Monogenic diabetes, caused by single gene mutations, accounts for a significant portion of diabetes cases.
• Early and accurate diagnosis is crucial for appropriate management and preventing complications.

Purpose of the Study:

• To determine the prevalence of monogenic diabetes mutations in a large cohort of Indian individuals clinically suspected of having the condition.
• To identify specific gene mutations associated with monogenic diabetes in this population.

Main Methods:

• A total of 774 participants were recruited from 65 diabetes centers across India.
• Inclusion criteria included age at diagnosis ≤30 years, family history of diabetes, BMI ≤30 kg/m², and absence of ketonuria.
• Genetic testing was performed to identify pathogenic/likely pathogenic mutations according to ACMG/AMP guidelines.

Main Results:

• Monogenic diabetes mutations were identified in 15.5% (120/774) of the screened individuals.
• HNF1A MODY was the most common mutation (32.5%), followed by HNF4A MODY (16.7%) and HNF1B MODY (13.3%).
• Syndromic forms, including Wolfram Syndrome and Maternally Inherited Diabetes with Deafness, were also identified.

Conclusions:

• Monogenic diabetes is confirmed in 15.5% of individuals screened with specific clinical criteria in India.
• Genetic testing in phenotypically selected patients with youth-onset diabetes is vital for diagnosing monogenic diabetes.
• Identifying monogenic diabetes enables personalized treatment strategies for improved patient outcomes.