Fig. 3.

Cdh23 expression and genetic variants in CDH23. (A) Digital PCR-based Cdh23 levels (n = 6 per group, age 4–6 weeks). **P < .01, ***P < .001 by Holm-Sidak method with alpha = 0.05. (B) Inbred B6N and C3HN mice (n = 6 per group, age 4–6 weeks). (C) Cdh23 expression in whole cortex across the development (n = 14–17 per group). *P < .05, ***P < .001 by unpaired two-tailed Student’s t test. (D) Novel rare variants in CDH23 identified exclusively in schizophrenia cases (see supplementary figure 9). (E) red, deleterious by ≥ 4 annotation tools; pink, deleterious by ≤3 tools; blue, not deleterious; green, homologous variant for Cdh23 c.753G>A (rs769896655; c.753G>A/T P251P, and another variant resulting in P251L). (F) Allele conservation across species. (G) Allele-specific expression of CDH23 in hair follicles (n = 1 in triplicate), peripheral blood samples (n = 1 in triplicate), hiPSCs (four lines, triplicate measurements), hiPSC-derived neurospheres, and neurons (early neurons; day 7, mature neuron; day 30 of differentiation) from a healthy subject heterozygous for the variant. *P < .05, **P < .01 by unpaired two-tailed Student’s t test.