British scientists have discovered 12 genes linked to developmental disorders in children that can cause heart defects, seizures and intellectual disability. This finding by the ongoing research project, Deciphering Developmental Disorders (DDD), could increase by 10 percent the proportion of children that could be diagnosed by identifying the DNA mutations responsible for their condition.
Almost half the children with severe developmental disorders such as growth problems, physical deformities, and learning and behavioral problems have no specific genetic diagnosis. The symptoms ranging from epilepsy, autism, schizophrenia, physical deformities or stunted growth can vary from one person to another. The genetic coding errors that underlie these developmental disorders are poorly understood.
These new genes were found in a trawl of the genomes of 1,133 children with severe, undiagnosed disorders and their parents. Researchers opine that pinpointing the genes responsible is the starting point in the search for new treatments. The research may also be helpful to doctors for understanding why some people get developmental disorders, and inform the reproductive choices of people who already have an affected child.
Researchers hope that the project will inspire more clinical and research programs around the world to deposit data to pinpoint more genetic causes of developmental disorders and improve diagnostic rates internationally
The study is published in the journal Nature.