Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice

Key Points

Disease-causing variants were identified in 12.1% of young Thai patients with atypical diabetes, enhancing clinical management.
The findings suggest a potential link to a polygenic background or undiscovered MODY-X genes among the population.
Genetic testing improved not just individual diagnoses but also familial clinical strategies for managing diabetes.
Registering family-based cohorts could significantly advance the understanding and treatment of atypical diabetes.

Abstract

Genetic testing for monogenic diabetes in a real-world setting identified disease-causing variant in 12.1% of young Thai patients with atypical diabetes. Despite this low yield, accurate genetic diagnoses improved clinical management in both probands and family members. These findings underscore the potential contribution of a strong polygenic background or yet unidentified MODY-X genes among Thai patients. Establishing a register of family-based cohorts documenting the molecular diagnosis of atypical diabetes will advance diagnosis and treatment.

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Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice

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Abstract

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