This website provides information on patients with mutations in the CAPRIN1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by variants in the CAPRIN1 gene is a neurodevelopmental disorder characterized by language impairment, attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and intellectual disability (Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, NEDLAAD, OMIM # 620782). Some patients also experience epileptic seizures and other disturbances, including impaired vision and gastrointestinal and respiratory issues.
Not all individuals with a mutation in the CAPRIN1 gene have these features.
Indeed, a specific point mutation impairing aminoacid 512, has been associated with early onset ataxia (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, CONDCAC, OMIM # 620636).
In addition, some patients carrying variants in the CAPRIN1 gene show an absent or milder phenotype, suggesting an incomplete penetrance.

This website was created to share and collect information about clinics, management, and research projects to gather more knowledge and provide better treatment for patients with mutations in the CAPRIN1 gene.

Lisa Pavinato, PhD, Institute of Oncology Research (IOR), Bellinzona Institutes of Science (BIOS+), Bellinzona, Switzerland; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland, lisa.pavinato@ior.usi.ch

Alfredo Brusco, PhD, Dipartimento di Neuroscienze “Rita Levi Montalcini”, Università di Torino; Medical Genetics Unit, Città della Salute e della Scienza University Hospital di Torino, Torino, Italy, alfredo.brusco@unito.it