Gene under study
DSCAM (OMIM 602523)
Abstract
The DSCAM (Down Syndrome Cell Adhesion Molecule) gene encodes a cell adhesion protein involved in key processes of neural development, including axon guidance, dendritic arborization, and synapse formation. Mutations in DSCAM have recently emerged as potential contributors to neurodevelopmental disorders, including autism spectrum disorders. We are currently assembling a cohort of patients carrying monoallelic DSCAM mutations to better understand the associated clinical spectrum. Our aim is to perform an in-depth phenotypic characterization of these individuals, focusing on neurodevelopmental, behavioral, and neurological features. We invite clinicians and researchers who have identified such patients to join this collaborative effort and help advance our understanding of DSCAM-related conditions.
Coordinating team
dott.ssa Verdiana Pullano – verdiana.pullano@unito.it
dott. Federico Rondot MD – federico.rondot@unito.it
dott. Andrea Gazzin MD – andrea.gazzin@unito.it
prof. Alessandro Mussa MD PhD – alessandro.mussa@unito.it
prof. Alfredo Brusco PhD – alfredo.brusco@unito.it
Institutions
Città della Salute e della Scienza di Torino, Ospedale Regina Margerita, Torino
Neuroscience Department, University of Turin
Pediatric science Department, University of Turin
Department of Medical Sciences, University of Turin
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes (optional)
2- Resampling of patients: Yes (optional)
3- Linked to a translational/basic research project: No