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Belgian Endocrine Society 2020

Online, Online
11 Nov 2020 - 11 Nov 2020

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BES 2020

A rare ABCC8 gene mutation causing severe Maturity-Onset Diabetes of the Young (MODY-12): case report and mini review

ea0071030 | A rare ABCC8 gene mutation causing severe Maturity-Onset Diabetes of the Young (MODY-12): case report and mini review | BES2020

A rare ABCC8 gene mutation causing severe Maturity-Onset Diabetes of the Young (MODY-12): case report and mini review

Marijke Timmers , 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...