Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed.Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Missense variants clustered in the TRP 2, 3, 7 and Jmj-C domains. Truncating variants were...