hrp0082fc3.4 | Diabetes | ESPE2014

Genetics of Paediatric Type 2 Diabetes: ABCC8 Mutation in Obesity-Associated Insulin Secretion Defects

Wiegand Susanna , Simaite Deimante , Dannemann Almut , Kuhnen Peter , Krude Heiko , Gong Maolian , Raile Klemens

Background: Type 2 diabetes in children and adolescents is a rare disease with an estimated incidence (age 0–20 years) of below 5/100 000 in Germany.Objective and Hypotheses: We hypothesize that monogenic alterations might contribute to early-onset insulin secretion defects, if islet function was challenged by obesity-associated insulin resistance.Method: We follow more than 1500 children and adolescents with obesity. Patients...

hrp0082fc9.3 | Beta cells | ESPE2014

In Search for New Monogenic Diabetes Genes: PCBD1

Simaite Deimante , Kofent Julia , Gong Maolian , Ruschendorf Franz , Jia Shiqi , Arn Pamela , Bentler Kristi , Ellaway Carolyn , Kuhnen Peter , Hoffmann Georg , Blau Nenad , Spagnoli Francesca , Hubner Norbert , Raile Klemens

Background: Mutations in more than 20 genes are described to cause monogenic diabetes. Nevertheless, numerous families with diabetes of unknown ethology and suspected genetic defect have no molecular diagnosis. This not only impedes our understanding of disease mechanisms but also prevents from predicting the clinical course of the patients and applying the pathogenesis-oriented treatment.Objective: To identify novel gene(s), causing monogenic adolescent...