Question

Some of the patients have deletions of just one gene and have intellectual disability. However the pathogenicity of the gene deletion is reported asbenign. Why is this the case?

Answer 1

When a patient has a deletion of just one gene that results in intellectual disability, the pathogenicity of the gene deletion being reported as benign means that the deletion of the gene itself is not causing the intellectual disability. Other factors or genes are involved in causing the disability.

Step-by-step explanation:

When a patient has a deletion of just one gene that results in intellectual disability, but the pathogenicity of the gene deletion is reported as benign, it means that the deletion of the gene itself is not causing the intellectual disability. There are other factors or genes involved in causing the disability.

Intellectual disability can be caused by a variety of factors, including mutations in multiple genes, environmental factors, or interactions between genes. In some cases, a single gene deletion may not result in intellectual disability on its own but may contribute to it when combined with other genetic or environmental factors.

One example of this is Down syndrome, which is caused by the presence of an extra copy of chromosome 21. Although individuals with Down syndrome have intellectual disability, the specific genes on chromosome 21 that are responsible for the intellectual disability are still being studied.