hrp0086fc6.2 | Syndromes: Mechanisms and Management | ESPE2016

Whole Exome Sequencing Identifies EPHB4 and PIk3R6 as Causes of Generalized Lymphatic Anomaly

Li Dong , Wenger Tara , Seiler Christoph , March Michael , Tian Lifeng , Kao Charlly , Pandey Rahul , Nguyen Kenny , Chiavacci Rosetta , Sleiman Patrick , Itkin Maxim , Dori Yoav , Hakonarson Hakon

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...

hrp0095p1-497 | GH and IGFs | ESPE2022

Metabolomics profile of children with growth hormone deficiency

Shilo Smadar , Bar Noam , Halloun Rana , Cohen Michal , Rossman Hagai , Gal Shoshana , Oren Meirav , Malitsky Sergey , Itkin Maxim , Shahaf Nir , Lotan-Pompan Maya , Godneva Anastasia , Weinberger Adina , Tiosano Dov , Segal Eran

Background and Objectives: In recent years, a growing number of studies investigated the profile of serum metabolomics in health and disease. These studies have led to the discovery of novel biological biomarkers and causative agents for a variety of medical conditions. Here, we focused on profiling serum metabolites of children diagnosed with growth hormone deficiency (GHD).Methods: We conducted a prospective study and ...