Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype (Cell Reports)

Using 3D neural spheroids, Javed et al. investigate a mutation in KNL1 that causes microcephaly. Their study shows that, despite ubiquitous mutant KNL1 expression, KNL1 mRNA processing is affected only in neural precursors due to difference in splicing protein levels, offering insights into why the phenotype remains brain specific in patients.