In a major scientific breakthrough, scientists have identified 15 genes that are said to be responsible for the onset of intellectual disabilities. Such disorders are usually caused by a mutation in genes that produce a specific type of protein. The mutation restricts the cell’s ability to produce a specific type of protein, lack of which results in intellectual disabilities. Researchers have noticed that in various disease-related genes, the mutation does not necessarily eliminate the gene completely; rather, it just alters its original function. To understand the mechanisms better, researchers compared the gene mutations in Dutch patients with that of a large international database of patients with de novo mutations. A de novo mutation is one wherein a genetic mutation is present for the first time in one family member. It could be as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis.
The study has been published in the American Journal of Human Genetics. The results have revealed 15 genes in which mutations are clearly evident. 12 of these genes are associated with intellectual disabilities. Christian Gilissen, geneticist from Radboud University in Netherlands, said, “With our method, we were able to detect genes in which mutations not so much eliminate as affect the gene in another way. We also found three new genes that are likely to play a role in the development of intellectual disabilities as well.”