KMT2C

The information for this summary of KMT2C-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full KMT2C Gene Guide

The online Gene Guide includes more information about KMT2C such as the chance of having another child with this condition, behavior and development concerns linked to KMT2C-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

KMT2C-related syndrome is also called KMT2C-related neurodevelopmental disorder. For this webpage, we will be using the name KMT2C-related syndrome to encompass the wide range of variants observed in the people identified. 

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What is KMT2C-related syndrome?

KMT2C-related syndrome happens when there are changes in the KMT2C gene. These changes can keep the gene from working as it should. 

Key Role

The KMT2C gene helps to control other genes during brain development. 

Symptoms

Because the KMT2C gene is important for brain activity, many people who have KMT2C-related syndrome have: 

  • Short height 
  • Poor growth 
  • Sideways curvature of the spine, also called scoliosis 
  • Delayed motor development 
  • Intellectual disability 
  • Speech delay 
  • Seizures 
  • Autism 
  • Developmental regression 
  • Brain changes seen on magnetic resonance imaging (MRI) 
  • Attention-deficit/hyperactivity disorder (ADHD) 
  • Gastrointestinal issues 
  • Vision issues

How many people have KMT2C-related syndrome?

As of 2024, over 107 people with KMT2C-related syndrome have been identified in a medical clinic. 

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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 KMT2C.

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Research Article Summaries

Below, we have summarized research articles about changes in the KMT2C gene. We hope you find this information helpful.

The information available about KMT2C 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 KMT2C 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 KMT2C 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

Stories from KMT2C families:

Click here to share your family’s story!