Alternate gene names: CTNNB
Associated syndromes or conditions: Intellectual disability type 19 (formerly called "mental retardation type 19").
Genomic location: 3p22.1

Diagnoses observed in people with changes in the CTNNB1 gene:

  • Autism Spectrum Disorder – some (few)
  • Intellectual Disability or Developmental Delay - Yes
  • Epilepsy or Seizures - No
  • Attention Deficit Hyperactivity Disorder – No
  • Schizophrenia – No
  • Bipolar Disorder - No

Support Resources:


Research Opportunities:

In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunities.

  • TIGER Study: The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with changes in CTNNB1. Click here to learn more about this opportunity.

Infographic: https://magic.piktochart.com/output/5677683-ctnnb1-infographic (share this link with others)


Research Article Summaries:
Below, we've summarized several research articles that include information about CTNNB1. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Tucci et al. (2014)
    This very detailed study shares information about 4 individuals who had gene changes in CTNNB1. The four individuals had very similar features, including: varying degrees of intellectual disability, features of autism, low muscle tone (hypotonia) which could develop into tight muscle one as they got older (called progressive spastic diplegia), a smaller-than-average head size (microcephaly), subtle facial differences and differences in the brain structure (such as an underdeveloped corpus callosum – the structure that allows both sides of the brain to work together).

    This study also used mouse models to study behavior, learning, and physical traits, as well as differences in the structure, size, shape, and appearance of the brain throughout development. They found that CTNNB1 is involved in brain development and can lead to the features seen in individuals with changes in this gene.

     
  • de Ligt et al. (2012)
    In this study, 100 patients with severe intellectual disability (and their unaffected parents) underwent exome sequencing to attempt to identify a genetic cause for their diagnosis. Further analysis was performed for five genes that have been associated with intellectual disability (DYNC1H1, GATAD2B, ASH11, KIFSC and CTNNB1) in 765 additional patients with intellectual disability. 

    Three patients were identified with genetic changes in CTNNB1; 2 were not inherited from either parent [de novo], and in one case inheritance was unknown because both parents were not available to test.  These three patients all had features of severe intellectual disability, absent or very limited speech, smaller than typical head size (microcephaly) and tight muscle tone (spasticity) which limited the ability to walk This study demonstrated that changes in CTNNB1 is a cause of intellectual disability in some children. Overall, results of this study showed that diagnoses were made by exome sequencing in about 16% of cases. 

     
  • O'Roak et al. (2012)
    Whole exome sequencing was performed for 209 families (677 individuals) who had participated in the Simons Simplex Collection (SSC).  The SSC study included children with autism and intellectual disability.  This study identified over 100 new candidate genes related to developmental delay, intellectual disability and/or features of autism, including an individual with a change in the CTNNB1 gene that was not inherited from either parent (de novo).

    Interestingly, the authors note that the CTNNB1 gene is involved in a molecular process called “chromatin remodeling.” Understanding which genes are involved in the chromatin remodeling process is currently an active area of genetic and autism research.

You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: CTNNB1

Back to: Genetic Changes We're Studying