In a study published in the journal Nature Communications, scientists studied the genomes of more than 9,700 children with severe undiagnosed developmental disorders to search for genetic changes that may lead to disorders such as autism, epilepsy, intellectual disabilities and heart defects. The data used in the study was collected from children enrolled in The Deciphering Developmental Disorders Project. The researchers focused their attention on regions of the genome called transposons, or jumping genes, which are pieces of DNA that can change locations within the genome. When jumping to other regions of the genome, transposons can land in the middle of genes and disrupt their function, therefore, researchers wanted to study the role of transposons in rare developmental disorders. The researchers showed that transposons were the likely cause of the developmental disorder in three previously undiagnosed patients, since the transposons had jumped into different genes in each patient, preventing the genes from functioning properly. The genes that were damaged by the transposons provided genetic information for the patients and their families so they could better understand their developmental disorder. An important outcome of the study is that it shows the value of routine clinical sequencing for identifying transposon-linked disorders in undiagnosed children.
For more information, a short summary can be found on ScienceDaily. The complete research article, “Contribution of retrotransposition to developmental disorders.” by Gardner et al., was published in Nature.
