hrp0086p1-p816 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype

Santoro Elisa , Marini Romana , Novelli Antonio , Alesi Viola , Dentici Maria Lisa , Cappa Marco

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

hrp0098p1-160 | GH and IGFs 2 | ESPE2024

Systematic Approach To Define Clinically Significant Variants of Unknown Significance (VUS) in Children With Short Stature

Deodati Annalisa , Mirra Giulia , Pampanini Valentina , Fausti Francesca , Ruta Rosario , Mucciolo Mafalda , Ubertini Graziamaria , Novelli Antonio , Cianfarani Stefano

Background: Next generation sequencing (NGS) has recently been proposed as a primary diagnostic tool in the work-up of children with idiopathic short stature (ISS) and born small for gestational age (SGA). The main limitation of a multi-gene approach is represented by the difficulty in the interpretation of VUS clinical significance.Aim: To identify and characterize genetic variants in a cohort of children born SGA and I...

hrp0095p1-247 | Diabetes and Insulin | ESPE2022

Monogenic diabetes clinic: 3-year experience

Rapini Novella , Ippolita Patera Patrizia , Schiaffini Riccardo , Ciampalini Paolo , Pampanini Valentina , Cristina Matteoli Maria , Deodati Annalisa , Bracaglia Giorgia , Porzio Ottavia , Novelli Antonio , Mucciolo Mafalda , Cianfarani Stefano , Barbetti Fabrizio

Background: In Italy monogenic forms of hyperglycemia account for more than 6% of cases referred to pediatric diabetes clinics. In January 2019 we started a Monogenic Diabetes Clinic (MDC) with the three main aims: a) implementing a standardized pathway towards genetic testing, 2) ease the revision of complex cases, 3) implement standardized therapies for monogenic diabetes mellitus (MDM) subtypes.Methods: Type 1 diabete...