DYNC1H1

Below is a summary for the DYNC1H1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is DYNC1H1-related syndrome?

DYNC1H1-related syndrome happens when there are changes to the DYNC1H1 gene. These changes can keep the gene from working as it should.

Key Role

The DYNC1H1 gene plays a key role in the basic function of the cell.

Symptoms

Symptoms can vary widely. Because the DYNC1H1 gene is important in the development and function of brain cells, many people who have DYNC1H1-related syndrome have:

Neuromuscular issues
Intellectual disability

People who have DYNC1H1-related syndrome have different types of gene changes. This can affect which symptoms they have.

Do people with DYNC1H1-related syndrome look different?

Appearance can vary. In a few cases, people who have DYNC1H1-related syndrome may look different.

MUSCLE

More than 30 percent of those who have DYNC1H1-related syndrome have spinal muscular atrophy, a disorder in which the muscles used for movement are weak or waste away.

MUSCLE

7 percent have muscle weakness or low muscle tone at birth or in infancy, known as congenital myopathy.

BEHAVIOR

4 percent have autism as a primary diagnosis.

Support Resources

- Simons Searchlight Community – DYNC1H1 Facebook group
- DYNC1H1 Gene Mutation Family Support Group – Facebook group
- Geisinger Developmental Brain Disorder Gene Database – DYNC1H1

GeneReviews

GeneReviews 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.

There is currently no GeneReviews for DYNC1H1.

Research Article Summaries

We currently do not have any article summaries for DYNC1H1, but we add resources to our website as they become available.

The information available about DYNC1H1 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 DYNC1H1 articles can be found here.

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

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about DYNC1H1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

Family Stories

We do not currently have any stories from DYNC1H1 families.

Click here to share your family’s story!