Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Table 1 Clinical characteristics of the probands

	P1	P2	P3	P4	P5	P6	P7
Patient identifier OI variant database	AN_001001	AN_001954	AN_001096	AN_001060	AN_001955	AN_001062	AN_001956
Gene	COL1A1	COL1A1	COL1A2	COL1A2	COL1A2	COL1A2	COL1A2
Exon	7	8	7	8	9	12	14
Mutation	p.(G188D)	p.(G203C)	Skip ex 7	p.(G109D)	Skip ex 9	p.(G196V)	Skip ex 14
Sex	M	M	F	M	M	F	F
Stature	<3rd centile	3rd centile	<3rd centile	NA	<3rd centile	3rd centile	3rd-10th centile
Skin/soft tissue
Hyperextensibility and/or translucency	+	+	+	+	+	+	+
Delayed wound healing, abnormal scarring	+	+	+	-	+	-	-
Easy bruising	+	+	+	+	+	+	+
Muscle and joints
Hypotonia	+	+	+	+	-	+	-
Hypermobility	+	+	+	+	+	+	+
Dislocations	+	+	+	-	+	-	-
Scoliosis	-	+	-	-	-	-	-
CHD	-	-	-	-	-	-	-
Bone
Fractures	+ pelvis/vertebrae	+ (3x)	+ (late-onset)	-	+ (2x)	+ (4x)	+2x greenstickfracture
Cardiovascular
Echocardiography	ASD	Aortic dilation	NL	NL	NL	NL	ND
Arterial rupture	+	-	-	+	-	-	-
Other
Blue sclerae	+	+	+	+	+	+	+
Hernia	-	Inguinal	-	-	-	-	-

ISSN: 1750-1172