Identification of a Novel MAFA Missense Mutation Causing Familial Insulinomatosis Abstract #2737

Introduction: Insulinomatosis is a rare pancreatic disease characterized by an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors.
Aim(s): Only recently Iacovazzo et al. reported 2 unrelated families presenting autosomal dominant (AD) insulinomatosis and diabetes mellitus/impaired glucose tolerance (DM/IGT) linked to a missense mutation in the MAFA gene, segregating with both clinical phenotypes. Here we report another family with a novel and so far unknown MAFA-missense mutation, causing familial insulinomatosis.
Materials and methods: Two sisters presented at our center for recurrent hyperinsulinemic hypoglycemia and both were diagnosed with insulinomatosis. Given the rarity of the disease, a genetic condition was suspected. Next generation sequencing analysis was performed in both patients and in 10 healthy controls.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: PD. Dr. Christian Fottner

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