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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...

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ea0038p306 | Pituitary | SFEBES2015

Unique clinical picture in patients with X-linked acrogigantism

Iacovazzo Donato , Jose Sian , Bunce Benjamin , Caswell Richard , Hernandez-Ramirez Laura Cristina , Caimari Francisca , Ferrau Francesco , Kapur Sonal , Gabrovska Plamena , Dang Mary N , Rodd Celia , Vance Mary Lee , Ramirez Claudia , Mercado Moises , Goldstone Anthony P , Buchfelder Michael , Burren Christine , Dutta Pinaki , Choong Catherine , Cheetham Timothy , Roncaroli Federico , Ellard Sian , Sampson Julian , Korbonits M

Introduction: Non-syndromic pituitary gigantism can result from AIP mutations and the recently identified Xq26.3 microduplications causing X-LAG.Patients and methods: DNA samples and clinical data were collected from 151 patients with pituitary gigantism. All samples were tested for AIP mutations; AIP mutation negative cases (AIPneg) were screened for Xq26.3 microduplications.Results: Xq26.3 micr...

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Endocrine Abstracts

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

Unique clinical picture in patients with X-linked acrogigantism

BiosciAbstracts