ASH1L

The information for this summary of ASH1L-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full ASH1L Gene Guide

The online Gene Guide includes more information about ASH1L such as the chance of having another child with this condition, behavior and development concerns linked to ASH1L-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

ASH1L-related syndrome is also called Intellectual developmental disorder, autosomal dominant 52. For this webpage, we will be using the name ASH1L-related syndrome to encompass the wide range of variants observed in the people identified.

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 brain development and function, many people who have ASH1L-related syndrome have:

  • Speech delay
  • Developmental delay
  • Intellectual disability
  • Learning difficulties
  • Poor or absent speech
  • Seizures 
  • Sleeping issues
  • Autism
  • Behavioral issues
  • Anxiety 
  • Lower than average muscle tone

How many people have ASH1L-related syndrome?

As of 2024, at least 61 people with ASH1L-related syndrome have been identified in a medical clinic. The first case of ASH1L-related syndrome was described in 2012.

Learn more about the ASH1L gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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.

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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.

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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.

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Family Stories

We do not currently have any stories from ASH1L families.

Click here to share your family’s story!