Fig. 7. Cell growth and death in human fibroblasts and mouse brains.

(A) Cell growth was measured for primary fibroblast lines derived from unaffected individuals and two individuals with heterozygous KMT5B variants and was repeated three times for all cell lines. Cell growth was significantly different between control lines and lines from affected individuals at 48 hours (P < 0.05) and 72 hours (P < 0.001) as determined by Student’s t test. (B) Cell viability for primary fibroblast cell lines was measured using annexin V/propidium iodide staining and evaluated using flow cytometry. There was no significant difference between the lines determined by Student’s t test. (C and D) Brains from P0 mouse pups were weighed. There was no statistically significant difference in the mouse brain weight of the different genotype determined by Student’s t test.