Raman-Sharma_pictureUniversity of Adelaide researchers have discovered a defective gene that causes intellectual disability. The novel gene is found in males who have an intellectual disability while females who are carriers of the gene are not affected by the condition.

Dr Raman Sharma, from the University’s Robinson Research Institute, identified the gene which when mutated, causes intellectual disability in about one in 50 people. “At least half the people with an intellectual disability do not have a formal diagnosis because the defective gene has not been identified,” Dr Sharma said. “Advanced genetic technologies have accelerated the discovery of genes responsible for diseases like epilepsy, autism, intellectual disability and other neurological disorders. But the number of genetic conditions in which we have functional understanding of the mutated genes can be counted on two hands.”

He said as well as identifying the gene, researchers also discovered that it is partial loss of function of the THOC2 gene that leads to the altered brain function and specific facial characteristics associated with this disability. “For many reasons it is important to know about familial gene mutations but that is just the first step. Before we can develop a treatment for a condition, we first need to understand what is going on in the body and discover how a specific defected gene causes a particular disease.”

The research was published recently in the American Journal of Human Genetics.