ResearchBIORXIVMay 3
Preprint: Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulation
Researchers discovered that mutations in a gene called WDR91 can cause a serious brain disorder in children. This gene normally helps cells clean up and recycle waste materials. When both copies of the gene are damaged, children can develop a smaller brain, brain surface abnormalities, and seizures starting early in life.
WHY IT MATTERSIf your child has been diagnosed with severe developmental delays, microcephaly, or early-onset epilepsy without a genetic cause, WDR91 testing may help identify the underlying problem and guide future treatment strategies.