Some ELAVL2 variants cause a new neurodevelopmental disorder

Genetic clues from people around the world converged in databases used by researchers at Ōtākou Whakaihu Waka. Their study identifies variants in ELAVL2 as the cause of a previously unrecognized neurodevelopmental disorder. 15 individuals and families involved in the research now have an answer about the source of a neurological condition that had remained unexplained.

The gene was not unknown. Before the study, ELAVL2 was already recognized as having an important role in influencing brain development. The difficulty was connecting particular genetic changes to a defined disorder. Neurodevelopment depends on precise control of gene expression—the gene’s activity, in the right place and at the right time—and the researchers showed that some ELAVL2 alterations can change biological activity.

The findings came from an international collaboration between researchers at Ōtākou Whakaihu Waka and in the Netherlands. Using shared gene databases, the team matched people with ELAVL2 changes and similar medical features, including developmental delay and intellectual disability. The research formed a major part of Dr. Meghan Mulligan’s Ph.D. studies and was published in The American Journal of Human Genetics.

The findings open a new diagnostic pathway for families with rare and previously unexplained neurodevelopmental disorders. The researchers say diagnostic laboratories around the world may be able to use the findings to help other families and potentially reach a genetic diagnosis in a shorter time frame. A genetic cause can also help families obtain more personalized support and clinical care.

Mulligan is now continuing her investigation of other ELAVL genes and their role in neurodevelopment and disease, with the stated aim of finding causes for more families with rare, unexplained disorders.