Figure 3.

Novel COL11A2 variants are enriched in AIS cases and segregate with AIS in families. (A) Novel non-synonymous/splice-site variants observed in AIS cases (black lines on bottom) and in-house controls (grey lines on top). Glycine altering variants within the triple-helical region are bolded. Blue, thrombospondin domains; green, C-terminal propeptides. (B) Segregation of COL11A2 variants in families with multiple affected individuals. Black is braced or surgically treated AIS. Grey is joint hypermobility.