Fig. 3.

Combination of rare damaging mutations in CELSR2 p.Thr2026Met and DVL3 p.Asp403Asn in an individual showed the combined effect on down regulating PCP pathway. a Confirmation of CELSR2 p.Thr2026Met and DVL3 p.Asp403Asn by sanger sequencing. b CELSR2 p.Thr2026Met transfection downregulated PCP signal in HEK293T cell line. c DVL3 p.Asp403Asn disrupted DVL3 interaction with VANGL2. d DVL3 p.Asp403Asn transfection affects canonical Wnt and PCP signaling in HEK293T cell line. e DVL3 p.Asp403Asn and CELSR2 p.Thr2026Met both down regulated PCP signal, the combination of DVL3 p.Asp403Asn and CELSR2 p.Thr2026Met had lowest PCP signal