Targeted gene under study:
GNAI1 (OMIM*139310), GNB1 (OMIM*139380), GNB2 (OMIM*139390), GNB5 (OMIM*604447), GNAL (OMIM*139312), GRM7 (OMIM*604101), ADCY5 (OMIM*600293), PDE2A (OMIM602658), PDE10A (OMIM*610652)
Abstract
Mutations in these G protein-coupled receptor (GPCR) pathway genes have been linked to a variety of neurodevelopmental disorders, and the functional implications of these mutations remain underexplored. These genes include GNAI1, GNB1, GNB2, GNB5, GNAL, GRM7, ADCY5, PDE2A, and PDE10A. To address this knowledge gap, this study will incorporate clinical data, genetic information, and radiological imaging from a cohort of patients. Additionally, functional assays will be performed on variants of uncertain significance (VOUS) by Dr. Martemyanov at The Scripps Institute, FL, USA.The study data will be collected through RedCap, and functional studies will complement the phenotypic characterization. Recruitment is ongoing and will close in February 2025. Researchers who contribute data will be acknowledged as co-authors in the publications.
Coordinating team
Juan Darío Ortigoza-Escobar, MD, PhD – juandario.ortigoza@sjd.es
Belén Ortuño, MD – belen.ortuno@sjd.es
Institutions
Hospital Sant Joan de Déu, Barcelona, Spain
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes