ea0071030 | A rare ABCC8 gene mutation causing severe Maturity-Onset Diabetes of the Young (MODY-12): case report and mini review | BES2020
, Eveline Dirinck
, Patrick Lauwers
, Christophe De Block
Context: Maturity-Onset Diabetes of the Young (MODY) refers to a group of monogenic β cell disorders1. MODY12 comprises various mutations in the ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene of the ATP-sensitive potassium (K-) channel and is a condition that is not frequently encountered, comprising 1% of all MODY types1. Gain-of-function ABCC8 mutations can result in neonatal diabetes mellitus and/or MODY12, whereas loss-of-fun...