Building hope for the CAPRIN1 community

Supporting families affected by CAPRIN1-related disorders through research, education, and community connection.

We are CAPRIN1 Foundation

A community of families, researchers and healthcare professionals working together to support those affected by CAPRIN1-related disorders.

What is CAPRIN1?

CAPRIN1 disorders are rare neurodevelopmental conditions caused by changes in the CAPRIN1 gene, which plays a critical role in brain development and function.

Our Mission

We are dedicated to improving the lives of individuals affected by CAPRIN1-related disorders through research, advocacy, and community support.

Research & Hope

We fund cutting-edge research to better understand CAPRIN1 disorders and develop potential therapies that could help those affected.

What is CAPRIN1?

Fundamental to human biology is a process in which our genes, or DNA, is transcribed into mRNA and translated into proteins. CAPRIN1 is a vital protein involved in the translation and stability of essential mRNAs, including neuronal mRNAs that are essential for brain development and synaptic plasticity.

Mutations in the CAPRIN1 gene have been associated with rare neurological disorders. Specifically, a recurrent missense variant is linked to early-onset ataxia, affecting coordination and movement control, while loss-of-function variants result in a neurodevelopmental disorder, underscoring CAPRIN1’s critical role in brain function. The gene is predicted to be haploinsufficient, meaning that a half dose of the encoded protein is insufficient for proper function. Therefore, mutations in only one of the two inherited copies of the gene can have a profound effect.

Investigating CAPRIN1’s role in these various neurological conditions will provide insight into its importance in maintaining normal brain function and the effects of its dysfunction. Further research into CAPRIN1’s mechanisms in both healthy and disease states is essential for developing potential therapeutic strategies for these neurological disorders.

How Prevalent are CAPRIN1 Mutations?

Although CAPRIN1 mutations are rare (24 reported cases), the growing use of genetic testing is resulting in the identification of more cases each year! Dozens of new cases are discovered annually across the world, yet it’s likely that many more individuals with these mutations and related symptoms remain undiagnosed.

At this point, the progression of neurological symptoms in adulthood remains inadequately documented. Due to the fact that many adults with disabilities have not undergone advanced genetic testing, individuals with CAPRIN1 gene mutations are often under-recognized and under-reported. As we continue to build our community we can learn more about the long-term impact on CAPRIN1 mutations.

What causes CAPRIN1 gene mutation?

Genes, which make up our DNA, act as instructional codes that guide cells on how to grow, develop, and function. Each child inherits two copies of each gene—one from the mother’s egg and one from the father’s sperm. However, sometimes, a spontaneous variant can occur in the genes as they are being passed down. When a new genetic change appears in the DNA that was not present in the DNA of either parent, it is called a ‘de novo’ genetic variant. In such cases, the child is almost always the first in the family to have this genetic alteration.

De novo variants can occur in any gene, and while most have no impact on health, CAPRIN1 plays a vital role in development. As a result, genetic changes in CAPRIN1 can have significant effects. Research indicates that CAPRIN1-related syndrome is frequently caused by de novo variants in CAPRIN1 and many parents who underwent genetic testing did not have the variant found in their affected child. However, in some cases, the mutation can be directly inherited from a parent.

Autosomal Dominant Inheritance

CAPRIN1-related syndrome follows an autosomal dominant inheritance pattern. This means that having just one altered copy of the CAPRIN1 gene is enough to cause the condition. A person with an autosomal dominant disorder has a 50% chance of passing the genetic variant to their child with each pregnancy and a 50% chance of not passing it on.

Diagnosis and Treatment

The CAPRIN1 Foundation provides resources and information on these strategies, assisting families in exploring therapy and support options.

Genetic Testing

Whole-exome sequencing (WES) or whole-genome sequencing (WGS) can identify CAPRIN1 mutations.

Symptom Management

There is no cure at present and the constant care required for someone suffering from CAPRIN1 can severely impact the patient’s and the family’s quality of life. Symptomatic treatments focus on managing epilepsy, speech therapy, occupational therapy, and supportive education.

Research into enhanced treatments, especially disease-modifying therapies, provides patients and their families with hope for a better quality of life for their loved ones.

A Community United

The CAPRIN1 Foundation was established by parents of children diagnosed with CAPRIN1-related disorders. Our journey began when families connected online, sharing their experiences and realizing the importance of creating a unified voice to drive research and support.

Today, we work with leading scientists, clinicians, and advocacy organizations to advance understanding of CAPRIN1 disorders and improve the lives of those affected.