Extended Data Fig. 6: Experimental validation of the pathogenicity of CENPH and MLH3.

a, Schematic for Cenph or Mlh3 knockdown in mouse zygotes via siRNA microinjection. b, Knockdown efficiency of Cenph and Mlh3. Data are representative of three independent experiments. Data show the mean ± SEM from three independent experiments. Statistical significance was determined using a two-sided Student’s t-test. The P value is 0.005 (**) and 0.035 (*) for siCenph and siMlh3, respectively. c, Representative images of the indicated developmental stages in Cenph knockdown or Mlh3 knockdown mouse embryos and siNC controls. Scale bar: 100μm.d, Chromosome analysis using whole genome sequencing data from embryos of patients OE-3099 and OE-2669 and control.