Researchers at King Abdullah University of Science and Technology (KAUST) and King Faisal Specialist Hospital and Research Centre in Saudi Arabia have found the genetic cause of a rare, fatal brain disorder that affects brain development before birth and causes seizures and structural abnormalities. The study was published in Genome Medicine.
The team compared cases from five unrelated families in Saudi Arabia, Europe and North America, three of them identified through Saudi genomic programmes. All had changes in the VPS25 gene, which normally helps maintain nerve cells; cell tests showed these changes alter the tiny packages cells release, including proteins that protect neurons.
It is the first time VPS25 has been linked to a human disease. Clinicians now have a new gene to consider when investigating unexplained brain abnormalities, and genetic testing during pregnancy may detect the condition, supporting counselling for families.
