Fig. 6

De novo missense mutations in EZH2 are maternally or paternally inherited through the germline in Weaver patients: a PacBio sequencing was carried out to identify single nucleotide polymorphisms (SNPs) in DNA from each patient and their respective parental haplotypes. Informative SNPs (i.e., those that were specific to either parent) allowed linkage of the patient’s EZH2 mutation in the patient to either the maternal or paternal allele (example of experimental pipeline shown). b The EZH2 mutation detected in each patient is shown in the middle column and parent-of-origin shown on the right, based on genetic linkage to either the mother or the father