COL5A1 and Aortic root aneurysm: Non-progressive aortic root dilatation (9.1%) was detected only in adults, namely in 5/27 investigated males and in 1/39 females; as well as aortic ectasia (z score > 2) that was documented in 2 adult males, one patient carried the COL1A1 c.934C > T p.(Arg312Cys) missense variant and the other a COL5A1 null allele (Additional Tables 1 and 2, Fig. 4a).