FIG. 1.

Four‐generation pedigree and amino acid sequence homology. (A) Four‐generation pedigree carrying the missense variant c.634A > T, p.Ile212Phe in DRD2. Genetic analysis was performed in the individuals indicated by “DNA.” Proband is indicated by an arrow. Individuals marked by an asterisk underwent whole‐exome sequencing. The variant (c.634A > T) was identified in 5 affected subjects and was absent in 3 unaffected subjects. Male = square, female = circle, sex unknown = hexagon. Filled symbols = affected. Open symbols = unaffected. Sequence alignments showing the amino acid sequence identity of the affected amino acids in (B) multiple species orthologs of DRD2 and (C) among the human dopamine receptor family. The mutated amino acid isoleucine at position 212 is indicated by the vertical box. The region of arrestin‐binding (IYIV) in DRD2 is indicated by the horizontal box. [Color figure can be viewed at wileyonlinelibrary.com]