Searchable abstracts of presentations at key conferences in endocrinology

ea0044oc1.5 | Early Career Oral Communications | SFEBES2016

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Iacovazzo Donato , Flanagan Sarah E. , Walker Emily , Caswell Richard , Brandle Michael , Johnson Matthew , Wakeling Matthew , Guo Min , Dang Mary N. , Gabrovska Plamena , Niederle Bruno , Christ Emanuel , Jenni Stefan , Sipos Bence , Nieser Maike , Frilling Andrea , Dhatariya Ketan , Chanson Philippe , de Herder Wouter , Konukiewitz Bjorn , Kloppel Gunter , Stein Roland , Ellard Sian , Korbonits Marta

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

ea0077ec1.1 | Early Career Prize Lecture Basic Science | SFEBES2021

Gene discovery in neonatal diabetes to uncover the mechanisms regulating human pancreas development

De Franco Elisa , Wakeling Matthew , Owens Nick , Johnson Matthew , Flanagan Sarah , Hattersley Andrew T

Understanding how pancreatic beta-cells develop during human development is essential to advance current protocols aimed at developing insulin-producing beta-cells in vitro and highlight therapeutic targets for diabetes treatment. Identifying the single-gene mutations which result in individuals developing diabetes in the first 6 months of life (a condition called neonatal diabetes) has the potential to give unique insights into the genes regulating human beta-cells w...

ea0057015 | A novel syndrome of neonatal diabetes, microcephaly and epilepsy caused by homozygous mutations in YIPF5 | BES2018

A novel syndrome of neonatal diabetes, microcephaly and epilepsy caused by homozygous mutations in YIPF5

Maria Lytrivi , De Franco Elisa , Kashyap Patel , Mariana Igoillo-Esteve , Matthew Wakeling , Belma Haliloglu , Edip Unal , Tushar Godbole , Melek Yildiz , Sian Ellard , Angeline Bilheu , Pierre Vanderhaeghen , Hattersley Andrew T , Miriam Cnop

Background and aims: Neonatal diabetes diagnosed before 6 months is caused by mutations that reduce. β cell number (reduced formation or increased destruction) or impair β cell function. We investigated the genetic cause of a syndrome characterised by neonatal diabetes, microcephaly and epilepsy.Materials and methods: We performed whole genome sequencing for two unrelated patients with neonatal diabetes, epilepsy and microcephaly. Replication s...