ASH1L

Below is a summary for the ASH1L 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 ASH1L-related syndrome?

ASH1L-related syndrome happens when there are changes to the ASH1L gene. These changes can keep the gene from working as it should.

Key Role

The ASH1L gene plays a key role in brain development. It controls the activity of other genes.

Symptoms

ASH1L-related syndrome can have mild to severe effects on the development of communication, social, and learning skills. Because the ASH1L gene is important in the development of brain cells, many people who have ASH1L-related syndrome have:

Speech delay
Intellectual disability
Learning difficulties

Do people who have ASH1L-related syndrome look different?

People who have ASH1L-related syndrome generally do not look very different from others.

Behavior, Speech and Development

11 out of 13 had behavioral issues, including autism, ADHD, and obsessive behaviors.

5 out of 13 had speech delay.

13 out of 13 had intellectual disability.

Support Resources

Simons Searchlight Community – ASH1L Facebook group
Care4ASH1L – Care4ASH1L.com
– Care4ASH1L – Facebook Group
Geisinger Developmental Brain Disorder Gene Database – ASH1L

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 ASH1L.

Research Article Summaries

Below, we have summarized research articles about changes in the ASH1L gene. We hope you find this information helpful.

The information available about ASH1L is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 ASH1L articles can be found here.

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

Synaptic, transcriptional and chromatin genes disrupted in autism

Original research article by S. De Rubeis et al. (2014).

Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ASH1L genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from ASH1L families.

Click here to share your family’s story!