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Table 1 Clinical characteristics of the probands

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

  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 - - - - -
  1. ASD: atrial septum defect.
  2. CHD: congenital hip dislocation.
  3. NL: normal.
  4. ND: Not done.