A gene (i.e. a small piece of our genetic code or DNA) is an instruction to assemble a protein, which is essential for the formation and proper functioning of our body. In the case of the SMARCC2 gene, when a single letter is changed in the instructions which causes the resulting protein to not be formed correctly.
In some cases, changes in genes can be passed down from one or both of the child’s parents. These are called inherited variants. In other cases, the genetic change is brand new in the child and not present in the parents. These are called de novo variants. In the case of changes in the SMARCC2 gene, it is believed that they are typically de novo. In order to determine if a child has a change in the SMARCC2 gene, a genetic test will be performed. The genetic testing can be arranged by a clinical geneticist and involves the collection of a sample of blood or saliva from the affected individual (and eventually the parents).