What causes a CHD2-related disorder?
Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets two copies of the CHD2 gene: one copy from their mother, from the egg, and one copy from their father, from the sperm. In most cases, parents pass on exact copies of the gene to their child. But the process of copying genes is not perfect. A change in the genetic code can lead to physical issues, developmental issues, or both.
Sometimes a random change happens in the sperm or egg. This change to the genetic code is called a ‘de novo’, or new, change. The child can be the first in the family to have the gene change.
De novo changes can take place in any gene. We all have some de novo changes, most of which don’t affect our health. But because CHD2 plays a key role in development, de novo changes in this gene can have a meaningful effect.
Research shows that a CHD2-related disorder is often the result of a de novo change in CHD2. Many parents who have had their genes tested do not have the CHD2 gene change found in their child who has the syndrome. In rare cases, CHD2-related syndrome happens because the gene change was passed down from a parent.
No parent causes their child’s CHD2 related disorder. We know this because no parent has any control over the gene changes that they do or do not pass onto their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.
Taken from Simons Searchlight Gene Guide https://www.simonssearchlight.org/gene-guide/chd2/
The CHD2 gene
“CHD2 is a gene located on chromosome 15 that provides instructions for making a protein called chromodomain-DNA-helicase-binding protein 2 (CHD2). This protein regulates gene activity through a process called chromatin remodeling and may play an important role in the brain, although its exact function is not well understood.”
Taken from Coalition to Cure CHD2 website https://www.curechd2.org/what-is-chd2
Other resources in the UK
If you wish to learn more about genetics and also the organisations supporting families of those with rare and ultra rare genetic conditions in the UK, here are some resources.
Unique – provides support, information and networking to families affected by rare chromosome and gene disorders. https://rarechromo.org
You might wish to read Unique’s ‘The Little Yellow Book’ -A guide to rare chromosome disorders, which can be uploaded here. https://www.rarechromo.org/cms/wp-content/uploads/2017/11/LittleYellowBook.pdf
Genetic Alliance UK provides information about genetics, genetic services and living with a genetic condition. https://geneticalliance.org.uk
Rare Disease UK is the national campaign for people living with rare conditions. https://geneticalliance.org.uk/campaigns-and-research/rare-disease-uk/
SWAN U.K. (syndromes without a name) the only dedicated support network available for families of children and adults with undiagnosed genetic conditions in the U.K. It is run by the charity Genetic Alliance UK. https://geneticalliance.org.uk/support-and-information/swan-uk-syndromes-without-a-name/
Your Genome is a website providing information and education resources explaining genetics. https://www.yourgenome.org
Contact is a charity providing information and advice for families with disabled children. https://contact.org.uk
Orphanet is a European website providing information about rare conditions and a searchable rare condition database. https://www.orpha.net https://www.orpha.net/en/disease/gene/CHD2
NHS Genetic and Genomic Testing. https://www.nhs.uk/conditions/genetic-and-genomic-testing
Deciphering Developmental Disorders UK – a website primarily designed for those families who were invited to take part in the Deciphering Developmental Disorders Study by their local NHS genetics centre – and want to know more. https://www.ddduk.org
Genomics England – 100,000 Genomes Project https://www.genomicsengland.co.uk/initiatives/100000-genomes-project