SIN3A

Below is a summary for the SIN3A gene observed in research publications. This is not meant to take the place of medical advice.

What is SIN3A-related syndrome?

SIN3A-related syndrome happens when there are changes to the SIN3A gene. These changes can keep the gene from working as it should. SIN3A-related syndrome is also known as Witteveen-Kolk syndrome.

Key Role

The SIN3A gene plays a key role in controlling other genes, especially in a region of the brain called the cerebral cortex.

Symptoms

Because the SIN3A gene is important in the development and function of brain cells, many people who have SIN3A-related syndrome have:

  • Mild intellectual disability or developmental delay
  • Motor delays
  • Small head
  • Short height

How many people have SIN3A-related syndrome?

As of 2021, about 46 people in the world with changes in the SIN3A gene have been described in medical research.

The first case of SIN3A-related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Do people who have SIN3A-related syndrome look different?

People who have SIN3A-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Long face
  • Tall, broad forehead
  • Small mouth with thin upper lip
  • Eyes that slant downwards
  • Small head
  • Short height

Learning

Most children with SIN3A-related syndrome have mild-to-moderate intellectual disability (30/43, or 70 percent).

Behavior

About one-half (19/40) have behavior issues, including autism, attention deficit hyperactivity disorder, or ADHD, and social difficulties. Other less common behavior issues include obsessive-compulsive disorder, depression, psychosis, and aggressive behavior.

 

Speech

Some have delayed speech (11/28, or 39 percent).

Learn more about the SIN3A 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 are currently no GeneReviews for SIN3A.

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Research Article Summaries

We currently do not have any article summaries for SIN3A, but we add resources to our website as they become available.

The information available about SIN3A 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.

 

  • Witteveen JS. et al. Nature Genetics, 48, 877-887, (2016). Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity, pubmed.ncbi.nlm.nih.gov/27399968/.
  • Balasubramanian M. et al. European Journal of Human Genetics, Epub ahead of print, (2021). Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype, pubmed.ncbi.nlm.nih.gov/33437032/.
  • Narumi-Kishimoto Y. et al. European Journal of Medical Genetics, 62, 103547, (2019). Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome, pubmed.ncbi.nlm.nih.gov/30267900/.
  • van Dongen LCM. et al. American Journal of Medical Genetics Part A, 182, 2384-2390, (2020). Behavior and cognitive functioning in Witteveen-Kolk syndrome, pubmed.ncbi.nlm.nih.gov/32783353/.

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 SIN3A articles can be found here.

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

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about SIN3A 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 SIN3A families.

Click here to share your family’s story!