Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

Abstract

Highlights MODY subtype 5 is caused by mutations in the HNF1B gene. MODY should be suspected in individuals who are lean and lack ethnic T2DM risk factors. Deletion syndrome has different phenotypic expressions based on the genes involved.

Keywords

• MODY
• Microdeletion syndrome
• Monogenic disease
• Latin American population
• Colombian population
• Case report