Table 1 Characteristics of OI patients and normal controls (lock time 2013)

OI-1

Family-1

Female

76

COL1A1, c.1821 + 1G > A

III

OI-2

Family-1

Male

19

COL1A1, c.1821 + 1G > A

I

OI-3

Family-2

Male

46

COL1A1, c.750 + 2 T > A

III

OI-4

Family-2

Female

4

COL1A1, c.750 + 2 T > A

IV

OI-5

Family-3

Female

75

COL1A1, c.1128delT (p.Gly377Alafs*164)

III

OI-6

Family-3

Female

26

COL1A1, c.1128delT (p.Gly377Alafs*164)

IV

OI-7

Family-3

Female

2

COL1A1, c.1128delT (p.Gly377Alafs*164)

I

C-1

Family-1

Female

26

–

Healthy

C-2

Family-1

Male

26

–

Healthy

C-3

Family-2

Female

12

–

Healthy

C-4

Family-2

Male

28

–

Healthy

C-5

Family-3

Male

31

–

Healthy