A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay

► We described a novel mutation in KDM5C gene associated to intellectual disability. ► The nonsense mutation segregated with intellectual disability phenotype in the family. ► It leads to reduced levels of KDM5C transcript probably due to nonsense mediated mRNA decay. ► Our findings highlight the promise of KDM5C for understanding neural function.