Identification of a Novel MAFA Missense Mutation Causing Familial Insulinomatosis


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 ENETSConcerence (2020)

Presenting Author: Fottner C

Authors: Fottner C, Sollfrank S, Ghiasi M, Ferrata M, Schad A,

Keywords: Insulinomatosis, Insulinoma, hyperinsulinemic hypoglycemia, MAFA,

To read the full abstract, please log into your ENETS Member account.