Researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital have identified several gene mutations responsible for the most common childhood brain tumor, called medulloblastoma, adding evidence to the theory that the diagnosis is a group of genetically distinct cancers with different prognoses. These and accompanying findings are likely to lead to less toxic, better targeted treatment approaches over the next two years, the researchers said.
Researchers have identified 107 mutations in the RNA helicase DDX3X that cause cortical malformations in the developing brain. As the DDX3X gene is carried by the X chromosome, the associated developmental problems are more likely to occur in females. In severe cases, the functional changes in DDX3X resulted in a smaller or missing corpus callosum. Almost all of the mutations occurred de novo, meaning they happened during early development rather than being inherited from a parent. Researchers say the malfunction can now be considered to be a development disability syndrome.