A spelling mistake within a gene is called a mutation. Our genes are present in pairs in all the cells of our body; we inherit one gene of the pair from our mother and the other is inherited from our father. We usually need both copies of the CYFIP2 gene to be working properly for a healthy development.
In the CYFIP2-related neurodevelopmental disorder, there is a mutation in one of the gene copies and so it does not work optimally. When this occurs, the protein cannot exert its function and regulate brain development properly, thus causing the disease.
The exact molecular mechanism that causes the disease is yet to be elucidated.
What is needed to confirm the diagnosis of CYFIP2-related neurodevelopmental disorder?
The diagnosis of CYFIP2-related neurodevelopmental disorder is confirmed by performing genetic testing in an affected individual, which enables the detection of a disease-causing change in the CYFIP2 gene.
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 often the parents as well). Analyzing the DNA of the patient and comparing it with the parents’ DNA may facilitate the detection of a disease-causing change in the CYFIP2 gene that is not present in the healthy parents (i.e. a “de novo” change).
CYFIP2