hrp0095p2-185 | Growth and Syndromes | ESPE2022

Coexistence of (likely) pathogenic variants in two genes, EZH2 and PTEN, contribute to overgrowth and developmental delay phenotype in a female patient

Suco Sofia , Scaglia Paula , Esnaola Azcoiti Maria , Armando Romina , Braslavsky Debora , Sanguineti Nora , Arberas Claudia , Gabriela Ropelato Maria , Izquierdo Agustin , Bergada Ignacio , Keselman Ana

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

hrp0086p1-p596 | Growth P1 | ESPE2016

Functional in vitro Characterization of Two Novel Germinal STAT3 Mutations Associated with Short Stature, Immunodeficiency and Autoimmune Disease

Gutierrez Mariana , Scaglia Paula , Keselman Ana , Martucci Lucia , Karabatas Liliana , Domene Sabina , Blanco Miguel , Sanguinetti Nora , Bezrodnik Liliana , Di Giovanni Daniela , Caldirola Soledad , Esnaola Azcoiti Maria , Jones Nana-Hawa , Hwa Vivian , Revale Santiago , Vazquez Martin , Jasper Hector , Kumar Ashish , Domene Horacio

Background: We have recently reported the molecular diagnosis of two patients with severe growth failure associated with a spectrum of early-onset autoimmune disease and immunodeficiency. Heterozygous de novo mutations, c.1847_1849delAAG (p.E616del) and c.1276T>C (p.C426R), in the STAT3 gene were found. Functional in vitro studies of these variants are presented.Objective and hypotheses: We...