Figure 1.

Location of Identified Variants in DVL1, DVL3, and WNT5A Resulting in Dominant Robinow Syndrome

The variants in DVL1 and DVL3 are mostly small insertions or deletions, except for two splicing variants in DVL3; all of them are predicted to lead to −1 frameshifting. Black rectangles represent transcript segments identical to the reference DVL1 (A), DVL3 (B), or WNT5A (C) mRNAs. Red rectangles indicate the shared transcript regions affected by the −1 frameshift in the predicted protein structure in all subjects. Part of exon 14 (DVL1) or exons 14 and 15 (DVL3) transcript sequence is shown in detail. Previously described variants are displayed by blue circles, whereas variants identified in this study are displayed by red circles. Larger circles represent identical variants in unrelated individuals. For complete description of all variants, see Tables S1 and S2.