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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Mol Psychiatry. 2013 May 28;18(10):1077–1089. doi: 10.1038/mp.2013.71

Figure 5. Pedigrees of affected families and representative chromographs.

Figure 5

Asterisks denote affected nucleotides in respective chromographs. The Family in (a) has (NM_198859.3:c.22G>C p.E8Q) mutation. The father and both children have the mutation. The children are on the autism spectrum based on ADOS testing and have increased visual-spatial IQ based on the PPVT. The family in (b) has (NM_198859.3:c. 457G>A p.V153I) mutation present in a highly conserved protein interaction domain of PRICKLE2. The father and children have the mutation and both children have ASD by ADOS testing. Neither father was found to have ASD by ADOS testing. (c) Evolutionary conservation of PRICKLE2. Mutated residues are marked by the underlined red residue. (d) PRICKLE2 protein map and location of mutated amino acids.