Asian MODY: are we missing an important diagnosis?

Area of Science:

• Endocrinology
• Genetics
• Diabetes Research

Background:

• Maturity onset diabetes of the young (MODY) is a monogenic diabetes form with significant diagnostic and treatment implications.
• Previous UK studies found no Asian children with MODY, suggesting potential underdiagnosis in this demographic.

Purpose of the Study:

• To investigate the prevalence of MODY in UK Asian children.
• To assess the rate of MODY testing in Asian versus White populations in the UK.

Main Methods:

• Recruited families with dominant diabetes histories.
• Performed direct sequencing for HNF1A and GCK gene mutations in autoantibody-negative probands.
• Compared MODY testing data from the Exeter MODY database with UK census data.

Main Results:

• Identified three Asian families with MODY gene mutations (two HNF1A, one GCK) and three White UK families.
• Observed similar heterozygous MODY phenotypes in both Asian and White individuals.
• Found only 0.5% of UK MODY testing referrals were Asian, despite Asians comprising 4% of the population and having higher diabetes prevalence.

Conclusions:

• Confirmed the presence of childhood MODY in UK Asians.
• Demonstrated significantly lower rates of MODY testing among Asian individuals, impacting appropriate treatment.
• Recommended considering MODY in autoantibody-negative Asian patients without insulin resistance.