15q13.3 Deletion

Below is a summary for the 15q13.3 Deletion observed in research publications. This is not meant to take the place of medical advice.

What is 15q13.3 microdeletion syndrome?

Chromosome 15q13.3 microdeletion syndrome can affect the development of communication, social, and learning skills. It can affect how a person acts or interacts with others.

Key Role

The 15q13.3 region on chromosome 15 includes seven genes. Researchers are still trying to learn more about what the genes in this region do. One study suggests that one of the genes deleted in chromosome 15q13.3 microdeletion syndrome, called OTUD7A, is important for brain function.

Symptoms

Many people who have chromosome 15q13.3 microdeletion syndrome have:

  • Developmental delay, or intellectual disability, or both
  • Autism spectrum disorder or features of autism
  • Other behavior issues including attention deficit hyperactivity disorder, also called ADHD, aggression, and rage
  • Seizures or abnormal electroencephalogram, also called EEG, results; an electroencephalogram is a test that measures the brain’s electrical activity
  • Speech and language delay

Behavior, development, and medical concerns linked to chromosome 15q13.3 microdeletion syndrome:

  • Behavior: Many people have autism, features of autism, or behavior issues.
  • Speech: Many people have speech impairments.
  • Learning: Most people show some intellectual disability, ranging from mild to severe. Most people need special educational support.
  • Mental health: People who have chromosome 15q13.3 microdeletion syndrome can have hyperactivity and attention issues.
  • Brain: About one-quarter of people who have the syndrome have seizures. The age at which people had their first seizure varied.
  • Motor skills: Some people who have chromosome 15q13.3 microdeletion syndrome show delays in the development of hand movement skills and larger movement skills.

Learn more about 15q13.3 Deletion and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

Gene Reviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for 15q13.3 Deletions.

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Research Article Summaries

We currently do not have any article summaries for 15q13.3 Deletion, but we add resources to our website as they become available.

The information available about 15q13.3 Deletion is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for 15q13.3 Deletion articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 15q13.3 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from 15q13.3 Deletion families.

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