SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It is caused by mutations in the SYNGAP1 gene, which produces a protein essential for brain and cognitive development. Now, a multicentre study describes the wide variability in clinical symptoms among patients and reveals that the severity of the disease does not depend exclusively on the SYNGAP1 gene, but on other genetic factors that may modulate its clinical expression.
The study, published in the journal Neurobiology of Disease , opens up new avenues for better understanding how variants in the SYNGAP1 gene influence the severity of the disease, which has highly complex and variable clinical manifestations. Furthermore, the study has identified four novel variants of the SYNGAP1 gene, which expand our understanding of the genetic basis of the condition. The findings could help anticipate potential clinical trajectories and better guide therapeutic decisions in the management of this genetic condition, affecting one in every 16,000 people.
The lead authors of the study are the experts Marina Mitjans, Bru Cormand and Ferran Casals, from the Faculty of Biology and the Institute of Biomedicine at the University of Barcelona (IBUB), the Sant Joan de Déu Research Institute (IRSJD) and the CIBER Area for Mental Health (CIBERSAM) and the Area for Rare Diseases (CIBERER); Àlex Bayés, from the Sant Pau Research Institute (IR Sant Pau) and the Universitat Autònoma de Barcelona (UAB), and Àngels García-Cazorla, from IRSJD.
The study also highlights the contribution of researchers Selena Aranda (UB's Faculty of Biology and IBUB), Juliana Ribeiro (UB's Faculty of Medicine and Health Sciences and IRSJD) and Alba Tristán (UB's Faculty of Biology and IR Sant Pau).
