Uniting Hope and Science: Advancing CAPRIN1 Genetic Mutation Research for a Healthier Future
The International CAPRIN1 Foundation is devoted to creating a global community that supports and empowers individuals with CAPRIN1 mutation and their families by sharing knowledge, instilling hope, advancing research and raising awareness.
Welcome to our CAPRIN1 Community
We are a UK based parent and research support group, conducting a study to learn more about CAPRIN1 and its genetic implications. Our goal is to better understand the phenotypic effects of this mutation and its variability by comparing individuals who have been identified as carriers through genetic testing. Alterations in the CAPRIN1 gene have recently been associated with a rare genetic neurodevelopmental disorder, with affected individuals manifesting conditions including: - Language Impairment - Intellectual Disability - Attention Deficit Hyperactivity Disorder (ADHD) - Autism Spectrum Disorder (ASD) - Seizures - Epilepsy and other non-neurological features.
What is CAPRIN1
CAPRIN1 is a vital protein involved in mRNA translation and stability, playing a key role in brain development and synaptic plasticity, which are essential for learning and memory. 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, indicating that a half dose of the encoded protein is likely insufficient for its proper function. Investigating CAPRIN1's role in these 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.
Key Functions of CAPRIN1
- Regulates RNA transport and local protein synthesis in neurons.
- Involved in synaptic plasticity and memory formation.
- Helps control cell proliferation and stress response.
Associated Disorders
- Neurodevelopmental Delay: CAPRIN1 mutations can cause developmental delays, intellectual disability, and motor impairments.
- Autism Spectrum Disorder (ASD): CAPRIN1 dysfunction has been linked to autism-like traits.
- Epilepsy: Some individuals with CAPRIN1 mutations experience seizures.
- Speech and Language Impairments: Delayed speech development and communication difficulties are common.
Types of Mutations
- Loss-of-Function (LoF) Mutations: These result in reduced or absent CAPRIN1 protein function, often leading to severe neurological symptoms.
- Missense Mutations: Single amino acid changes can affect protein function and may contribute to milder or variable symptoms.
What Are The Symptoms Of CAPRIN1 Gene Mutation?
Since the CAPRIN1 gene plays a crucial role in brain function, many individuals with CAPRIN1 mutation experience:
Autism Spectrum Disorder (ASD/ASC)
Attention Deficit Hyperactivity Disorder (ADHD)
Speech and Language Impairment
Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline
Seizures
Epilepsy
Intellectual Disability
What causes CAPRIN1 gene mutation?
CAPRIN1 gene mutation is a genetic disorder caused by changes (variants) in genes. Genes act as instructional codes that guide cells on how to grow, develop, and function. Each child inherits two copies of the CAPRIN1 gene—one from the mother’s egg and one from the father’s sperm. Typically, parents pass down identical copies of the gene to their child. However, the process of egg and sperm formation isn't flawless, and changes in the genetic code can lead to physical or developmental challenges, or both.
Sometimes, a spontaneous genetic variant occurs in the sperm, egg, or shortly after fertilization. When a new genetic change appears in the DNA without being inherited from either parent, it is called a ‘de novo’ genetic variant. In such cases, the child is often 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 a de novo variant in this gene. Many parents who undergo genetic testing do not have the CAPRIN1 variant found in their child with the syndrome. However, in some cases, the condition is 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.
PARENTS (No Genetic Variant)
┌─────────────┐
│ gene / gene │ gene / gene │
└─────────────┘
│
Spontaneous (De Novo) Variant in Egg or Sperm
↓
CHILDREN OUTCOMES
┌──────────┬─────────┐
│ GENE / gene │ gene / gene │ gene / gene │
│ (Affected) │ (Non-carrier) │ (Non-carrier) │
└──────────┴─────────┘
What Is The Impact On Adulthood?
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.
Although CAPRIN1 mutations are rare, the growing use of genetic testing is resulting in the identification of more cases each year. Dozens of new cases are discovered globally annually, yet it’s likely that many more individuals with these mutations and related symptoms remain undiagnosed.
Diagnosis and Treatment
- 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.
The CAPRIN1 Foundation provides resources and information on these strategies, assisting families in exploring therapy and support options.
