What is CHD2 Deletion?

CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types, most commonly myoclonic seizures.

Recently, de novo mutations or deletions in CHD2 has been linked to intellectual disability and to autism. Researchers found 27 genes which abolish function of the corresponding protein — in at least two people with autism, and 6 genes are mutated in three or more people with autism. These six genes — CHD8, DYRK1A, ANK2, GRIN2B, DSCAM and CHD2 — are the strongest autism candidates identified so far.

If you think your child may have a genetic condition that leads to these symptoms, please get in touch with your neurologist and ask for genetic tests. Just having a diagnosis brings relief to the nagging doubts that parents have. It also helps the rest of the people with this very rare disorder – there is strength in numbers and we need numbers to help us get funding for research.

At the moment there are fewer than 300 diagnosed cases of CHD2 deletion.