GENE GUIDE

DSCAM-Related Syndrome

This guide is not meant to take the place of medical advice. Please consult with your doctor about your genetic results and health care choices. This Gene Guide was last updated on 2024. As new information comes to light with new research we will update this page. You may find it helpful to share this guide with friends and family members or doctors and teachers of the person who has DSCAM-Related Syndrome.
a doctor sees a patient

DSCAM-related syndrome happens when there are changes in the DSCAM gene. These changes can keep the gene from working as it should. 

Key Role

The DSCAM gene plays a key role in the interactions between brain cells and their development. 

Symptoms

Because the DSCAM gene is important for brain activity, many people who have DSCAM-related syndrome have: 

  • Developmental delay 
  • Intellectual disability 
  • Heart defects 
  • Autism 
  • Speech delays

DSCAM-related syndrome is a genetic condition, which means that it is caused by variants in genes. Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets two copies of the DSCAM gene: one copy from their mother’s egg, and one copy from their father’s sperm. In most cases, parents pass on exact copies of the gene to their child. But the process of creating the egg or sperm is not perfect. A change in the genetic code can lead to physical issues, developmental issues, or both.

Sometimes a spontaneous variant happens in the sperm, egg or after fertilization. When a brand new genetic variant happens in the genetic code is called a ‘de novo’ genetic variant. The child is usually the first in the family to have the genetic variant.

De novo variants can take place in any gene. We all have some de novo variants, most of which don’t affect our health. But because DSCAM plays a key role in development, de novo variants in this gene can have a meaningful effect.

Research shows that DSCAM-related syndrome is often the result of a de novo variant in DSCAM. Many parents who have had their genes tested do not have the DSCAM genetic variant found in their child who has the syndrome. In some cases, DSCAM-related syndrome happens because the genetic variant was passed down from a parent.

Autosomal dominant conditions

DSCAM-related syndrome is an autosomal dominant genetic condition. This means that when a person has the one damaging variant in DSCAM they will likely have symptoms of DSCAM-related syndrome. For someone with an autosomal dominant genetic syndrome, every time they have a child there is a 50 percent chance they pass on the same genetic variant and a 50 percent chance they do not pass on the same genetic variant.

Autosomal Dominant Genetic Syndrome

GENE / gene
GENE / gene
Genetic variant that happens in sperm or egg, or after fertilization
GENE / gene
Child with de novo genetic variant
gene / gene
Non-carrier child
gene / gene
Non-carrier child

Why does my child have a change in the DSCAM gene?

No parent causes their child’s DSCAM-related syndrome. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.

The risk of having another child who has DSCAM-related syndrome depends on the genes of both biological parents.

  • If neither biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increase in risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same genetic variant.
  • If one biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is 50 percent.

For a symptom-free brother or sister of someone who has DSCAM-related syndrome, the sibling’s risk of having a child who has DSCAM-related syndrome depends on the sibling’s genes and their parents’ genes.

  • If neither parent has the same genetic variant causing DSCAM-related syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit DSCAM-related syndrome.

As of 2024, 6 people with DSCAM-related syndrome have been identified in a medical clinic. The first case of this condition was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Do people who have de novo changes in the DSCAM look different?

People who have DSCAM-related syndrome might not look very different. More people need to be studied to find out if there are typical facial features. 

Scientists and doctors have only just begun to study DSCAM-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

  • Physical exams and brain studies
  • Genetics consults
  • Development and behavior studies
  • Other issues, as needed

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

  • Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
  • Guide individualized education plans (IEPs).

Specialists advise that therapies for DSCAM-related syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: epilepsy.com/…t-is-epilepsy/seizure-types

This section includes a summary of information from major published articles. It highlights how many people have different symptoms. To learn more about the articles, see the Sources and references section of this guide.

People with DSCAM-related syndrome have been identified in large-scale genetic sequencing studies. One person with DSCAM-related syndrome was 12 years old and had autism; behavioral issues, including restlessness and hyperactivity; an inability to listen; over eating, over sleeping; communication disorders; and a lack of speech. 

In 2024, the Simons Searchlight registry had only 4 people with DSCAM-related syndrome. As more people register and share medical information, we will be able to share more information back to the DSCAM community.

Where can I find support and resources?

Simons Searchlight

Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”

Sources and References

The information in this guide comes from a published medical article about people who have autism and who have de novo genetic changes in DSCAM. Below you can find details about the article, as well as a link to the full article.

  • Wang T. et al. Nature Communications, 7, 13316, (2016). De novo genic mutations among a Chinese autism spectrum disorder cohort, www.nature.com/articles/ncomms13316
  • Lim, C. S., Kim, M. J., Choi, J. E., Islam, M. A., Lee, Y. K., Xiong, Y., Shim, K. W., Yang, J. E., Lee, R. U., … & Kaang, B. K. (2021). Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice. Molecular Psychiatry, 26(12), 7538-7549. https://pubmed.ncbi.nlm.nih.gov/34253863/

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