Table 3. Main features and complications of patients according to type of COL3A1 variation (Villefranche major diagnostic criteria).

	Gr.1 Gly missense	Gr.2 Splice/Ins/Del/Dup	Gr.3 Haplo-insufficiency	Gr.4 triple helix variants	Gr.5 C-/N-terminal variants	Gr1 versus respectively: Gr2, Gr3, Gr4, Gr5
	N=127	N=55	N=14	N=7	N=12	P-value	test
Index cases	79 (62%)	45 (81%)	8 (57%)	5 (71%)	9 (75%)	**, NS, NS, NS	Chi-square
Male gender	49 (39%)	25 (45%)	5 (36%)	2 (29%)	2 (17%)	NS, NS, NS, NS	Chi-square
Caucasian ethnicity	122 (98%)	50 (91%)	13 (93%)	7 (100%)	11 (92%)	NS, NS, NS, NS	Chi-square
Median age at genetic diagnosisa	34 (27–42)	25 (18–33)	46 (38–52)	45 (44–48)	45 (38–49)	***, *, NS, NS	Wilcoxon
Median age at last follow-up visit	37 (26–45)	27 (19–39)	47 (42–53)	48 (45–55)	46 (34–52)	**, *, *, NS	Wilcoxon
Characteristic facial appearance	91 (80%)	47 (94%)	7 (64%)	1 (14%)	3 (30%)	*, NS, ***, **	Chi-square
Thin translucent skin	102 (90%)	50 (98%)	11 (92%)	4 (67%)	5 (56%)	NS, NS, NS, *	Chi-square
Extensive bruising	88 (76%)	49 (94%)	7 (64%)	3 (43%)	2 (20%)	**, NS, NS, ***	Chi-square
≥1 Major complication	98 (80%)	44 (80%)	12 (86%)	6 (86%)	8 (73%)	***, *, *, *	Log rank
≥1 Vascular complication	89 (74%)	37 (68%)	13 (93%)	5 (71%)	6 (55%)	**, NS, NS, *	Log rank
≥1 Digestive complication	44 (36%)	19 (34%)	0 (0%)	0 (0%)	0 (0%)	NS, *, NS, *	Log rank
≥1 Obstetrical complicationb	16 (22%)	6 (24%)	2 (22%)	1 (25%)	2 (25%)	NS, NS, NS, NS	Log rank
Median age of first major complication	29 (23–39)	23 (19–28)	45 (38–51)	47 (44–48)	41 (31–47)	**, **, **, *	Wilcoxon
Median number of major criteria	4 (2–5)	4 (3–5)	3 (2–3)	2 (2–3)	2 (1–2)	NS, NS, NS, ***	Wilcoxon

Quantitative variables are given in medians (interquartile range); percentages were calculated on the basis of available data for each item; P-values stratified for index status: *<0.05; **<0.01; ***<0.001. Between-groups comparison: Gly=missense variants at a Gly residue, Splice.

^aIndex cases only.

^bFemales only.