Table 4.

Relationship between clinical characteristics and different mutation types (helical mutation vs. haploinsufficiency) in COL1A1 and COL1A2 of 71 patients with OI at the time of bone densitometry analysis

	Helical mutation (n = 29)	Haploinsufficiency (n = 42)	p value
OI Type (I/III/IV)	9/4/16	33/1/8	<0.001
COL1A1/COL1A2 mutation	9/20	42/0	<0.001
Gender (M/F)	12/17	15/27	0.635
Age (years)	21.8 ± 17.1	21.4 ± 17.0	0.941
Height SDS	−2.93 ± 3.04	−0.61 ± 1.61	<0.001
Weight SDS	−1.29 ± 1.67	−0.55 ± 1.44	<0.05
BMD SDS	−2.73 ± 1.96 (n = 24)	−1.70 ± 1.25 (n = 40)	<0.05
Triangular face	21 %	17 %	0.672
Blue sclera	83 %	95 %	0.085
Dentinogenesis imperfecta	62 %	31 %	<0.01
Hearing loss	17 %	21 %	0.668
Fracture at birth	14 %	5 %	0.184
Bone deformity	69 %	50 %	0.115
Scoliosis	52 %	26 %	<0.05
Walking without assistance	76 % (n = 25)	98 %	<0.01

OI osteogenesis imperfecta, SDS standard deviation score, BMD bone mineral density