Figure 2.

Robinow-Associated DVL3 Variants

Overview of the variants identified in DVL3 in individuals with autosomal-dominant Robinow syndrome.

(A) Location of the identified variants within the final two exons, including three frameshifts in coding regions and two splice acceptor variants. The red bar within exon 15 represents the shared premature termination codon of all individuals within our cohort.

(B) Representation of the predicted mutant C-terminal tail from Robinow-syndrome-affected individuals in our cohort. Black regions represent amino acids encoded by exons of the wild-type DVL3. Red regions represent mutant amino acids predicted to result from translation in the −1 frame.