Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism

Two patients with global developmental delay and autism spectrum features were identified with pathogenic variants in KDM3B gene through whole exome sequencing and validated by Sanger sequencing. Clinical presentations ranged from severe developmental retardation with deafness to milder phenotypes, expanding the known genotype-phenotype spectrum of KDM3B-related neurodevelopmental disorders.