March 19, 2021

Mutations in the Neurochondrin Gene Linked to Epilepsy

Summary, originally published by Uppsala University

Mutations in the neurochondrin (NCDN) gene can cause epilepsy, neurodevelopmental delay and intellectual disability. The gene mutation significantly impairs contacts and signaling between neurons in the brain. This is the conclusion of a study led from Uppsala University and published in the American Journal of Human Genetics.

“The mutation may provide an additional explanation as to why people suffer from these conditions, making it easier to diagnose affected individuals. These are common ailments that are often diagnosed in preschool-age children. They raise concerns and questions among the parents of the affected children: Is this due to something going wrong during pregnancy, childbirth or infancy? Was there something wrong with our germ cells and is it hereditary? The mutations we have identified sometimes arise in individual germ cells prior to conception itself. It is then a matter of chance that they happen upon the neurochondrin gene to produce these effects,” says Niklas Dahl, senior consultant and professor of clinical genetics at Uppsala University’s Department of Immunology, Genetics and Pathology.

The study, which was led from Uppsala University, began by analyzing a worldwide database of genetic analyses of entire genomes. Researchers and physicians from around the world report genome abnormalities that they come across in patients or while conducting research, making it possible to see if any similar cases have been reported anywhere in the world. In Uppsala, researchers initially identified three cases of mutation in the NCDN gene.

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