Alternate gene names: none
Associated syndromes or conditions: Childhood-onset epileptic encephalopathy (EEOC)
Genomic location: 15q26.1

Diagnoses observed in people with changes in the CHD2 gene:

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

Support Resources:


Research Opportunties:

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

  • 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 CHD2. Click here to learn more about this opportunity, called the TIGER Study.

Infographic: https://magic.piktochart.com/output/5672543-draft-for-all (share this link with others)


Research Article Summaries:
We summarized several research articles about the CHD2 gene. As we learn more from children who have these gene changes, we expect this list of resources and information to grow. We hope you find this information helpful.

  • Suls et al., 2013 - De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
    Dravet syndrome, typically caused by changes (or mutations) in the SCN1A gene, causes a form of infantile epilepsy that is often not treatable by seizure medications. Seizures can occur especially when a child has a fever, and over time, the child will experience cognitive decline.This study evaluated 9 children who had a clinical diagnosis of Dravet syndrome, but were not found to have a change in the gene typically associated with the condition.

    Changes in CHD2 were identified in three individuals from this group, which is believed to provide an explanation for their seizure history. All three individuals with a CHD2 mutation had intellectual disability, fever-sensitive seizures, as well as myoclonic seizures beginning age 2 or later. The three children in this study had mild intellectual disability, and one of the three children also had a diagnosis of autism.

    Additionally, the researchers compared the features of the children they evaluated to 13 children with CHD2 variants who have been previously described. Several other children were shorter-than-average and had a smaller-than-average head size (microcephaly).

     
  • Epi4K Consortium, 2013 - De novo mutations in the classic epileptic encephalopathies
    The exomes (1% of the entire "genome") of 264 “trios” (child and both parents) were sequenced to seek a genetic cause for infantile spasms and another seizure disorder called “Lennox-Gastaut syndrome.” This study identified over 300 de novo (not inherited from either parent) gene changes, including 1 individual with a variant in CHD2. This individual had myoclonic seizures beginning at age 6 months and was developmentally delayed. More research and information is needed to determine the association between CHD2 and Lennox-Gastaut syndrome.

     

  • Chénier et al., 2014 - CHD2 haploinsufficiency is associated with developmental delay, intellectual disability,epilepsy and neurobehavioural problems
    Researchers in this study sought to describe a set of features associated with changes or “mutations” in the CHD2 gene. The researchers describe 11 individuals with CHD2 variants, who were identified from a group of over 26,000 individuals with either a history of autism, intellectual disability, or developmental delay.

    All eleven individuals had de novo mutations (not inherited from either parent). All eleven individuals had a seizure disorder that began in childhood, experienced some degree of intellectual disability (ranging from mild to severe) and a large range of delays (again, ranging from a mild speech delay to severe/global delays). Two of eleven patients had also had scoliosis. Additionally, no patients were identified to have a structural brain abnormality, meaning that they all had MRIs of the brain that appeared normal. Deletions of this gene are very rare, and have only been reported in 4 patients to date.

     

  • Carvill et al., 2013 - Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
    A group of 65 genes known to cause epilepsy were selected for genetic sequence analysis.  The set of genes studied by this group of researchers are called “epilepsy-associated genes.”  In this study, it was found that alterations in the CHD2 gene were related to health and behavior differences like autism spectrum disorder and epilepsy.


You can also visit SFARI's website to see information written for researchers about this gene. SFARIgene: CHD2

Back to: Genetic Changes We're Studying