Figure 1.

Pedigrees of affected families, representative chromographs, and evolutionary conservation of altered PRICKLE1 amino acids. Red arrows denote affected nucleotides in respective chromographs. The highly conserved amino acids altered in both families are indicated by a red box. The family in (A) has (NM_153026.2:c.1138C>T p.L380F) mutation. The mother and son have the mutation. The family in (B) has (NM_001144883.1:c.2026C>T p.R676W) mutation. The mother and son have the mutation.