Preprint: Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulation
WHY IT MATTERS
If 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.
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.
Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulation Authors: Merillon, N. et al. Server: medRxiv Category: genetic and genomic medicine Abstract: Biallelic variants in genes regulating endosomal, lysosomal and autophagy pathways are increasingly implicated in severe neurodevelopmental disorders, yet the contribution of the Rab7 effector WDR91 to human disease remains incompletely defined. We report a child with a severe neurodevelopmental disorder characterized by progressive microcephaly, microlissencephaly, corpus callosum hypoplasia, and early-onset epilepsy, harboring compound heterozygous WDR91 variants: a truncating variant (p.Gln215*) and a missense variant (p.Tyr15Asn). Functional analyses show that p.Gln215* abolishes WDR91 ex
ASK YOUR DOCTOR
If your child has unexplained severe neurodevelopmental disorder with microcephaly and early seizures, ask your neurologist or geneticist whether WDR91 genetic testing should be considered as part of diagnostic workup.