hrp0086rfc9.3 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Molecular Analysis of a Large Cohort of MODY Patients by Next Generation Sequencing

Artuso Rosangela , Orlandini Valerio , Palazzo Viviana , Giunti Laura , Landini Samuela , Provenzano Aldesia , La Barbera Andrea , Giglio Sabrina , Stagi Stefano

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

hrp0092p1-194 | Fat, Metabolism and Obesity (1) | ESPE2019

Whole Exome Sequencing to Identify Causative Variants in a Female Patient with Early Onset Obesity and Intellectual Disability: A New Case of Borjeson-Forsman-Lehmann syndrome

Pagliazzi Angelica , Artuso Rosangela , Traficante Giovanna , Giunti Laura , Bosi Emanuele , Provenzano Aldesia , La Barbera Andrea , Guarducci Silvia , Palazzo Viviana , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Formicola Daniela , Reho Paolo , Bargiacchi Sara , Dosa Laura , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

hrp0092p1-336 | Fat, Metabolism and Obesity (2) | ESPE2019

Genomic Knowledge as the Powerful Tool to Understand the Obesity

Artuso Rosangela , Pagliazzi Angelica , Palazzo Viviana , Giunti Laura , Landini Samuela , Provenzano Aldesia , La Barbera Andrea , Guarducci Silvia , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Vergani Debora , Tiberi Lucia , Formicola Daniela , Bargiacchi Sara , Reho Paolo , Bosi Emanuele , Peluso Francesca , Dosa Laura , Traficante Giovanna , Stagi Stefano , Giglio Sabrina

Obesity, with its complications, emerges as a major contributor to the global health burden becoming pandemic. It's an extremely complex disorder resulting of interaction of biological, social and behavioural factors that cause increase in food intake and reduction in energy expenditure. Although few monogenic forms and indeed several susceptibility loci have been described, the molecular basis underlying early onset obesity remain largely unknown. GWAS revealed consistent...