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Table 1 Genetic findings of 28 OI probands with mutations in COL1A1

From: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

Family No.

Type of OI

Exon or Intron

Nucleotide change (DNA level)

Predicted amino acid change (protein level)

Mutation type

Helical mutation or haploinsufficiency

Novel mutation

Familial/Sporadic

F1

I

Exon 4

c.333-9A > G

 

Splicing

Haploinsufficiency

Yes

S

F2

I

Exon 5

c.441delC

 

Frameshift

Haploinsufficiency

 

S

F3

I

Exon 5

c.386_387insC

 

Frameshift

Haploinsufficiency

Yes

F

F4

IV

Exon 5

c.391C > T

p. Arg131X

Nonsense

Haploinsufficiency

 

S

F5

IV

Exon 6

c.477_478 insT

 

Frameshift

Haploinsufficiency

Yes

S

F6

I

Exon 7

c.579delT

p. Pro193Profs*72

Frameshift

Haploinsufficiency

 

F

F7

IV

Exon 8

c.642 + 1G > A

 

Splicing

Haploinsufficiency

 

S

F8

I

Exon 8

c.590G > A

p. Gly197Asp

Missense

Helical

 

S

F9

I

Exon 9

c.658C > T

p. Arg220X

Nonsense

Haploinsufficiency

 

F

F10

IV

Exon 11

c.769G > A

p. Gly257Arg

Missense

Helical

 

F

F11

IV

Intron 12

c.858 + 24G > A

 

Splicing

Haploinsufficiency

Yes

S

F12

III

Exon 13

c.878G > A

p. Gly293Asp

Missense

Helical

Yes

S

F13

III

Exon 16

c.1021G > C

p. Gly341Arg

Missense

Helical

Yes

S

F14

IV

Intron 17

c.1155 + 3_1155 + 6del

c.1155 + 3_6delAAGT

Splicing

Haploinsufficiency

 

S

F15

I

Intron 20

c.1354-12G > A

 

Splicing

Haploinsufficiency

 

F

F16

I

Exon 21

c.1380delT

 

Frameshift

Haploinsufficiency

 

F

F17

IV

Exon 24

c.1667delC

 

Frameshift

Haploinsufficiency

Yes

S

F18

I

Exon 24

c.1615-1G > T

 

Splicing

Haploinsufficiency

Yes

S

F19

IV

Exon 35

c.2384-2394 del 11 mers

 

Frameshift

Haploinsufficiency

Yes

S

F20

IV

Exon 36

c.2461G > A

p. Gly821Ser

Missense

Helical

 

S

F21

I

Exon 37

c.2523delT

 

Frameshift

Haploinsufficiency

 

S

F22

I

Exon 38

c.2644C > T

p. Arg882X

Nonsense

Haploinsufficiency

 

F

F23

I

Exon 40

c.2775delT

 

Frameshift

Haploinsufficiency

Yes

S

F24

III

Exon 42

c.3064G > A

p. Gly1022Ser

Missense

Helical

 

S

F25

I

Exon 42

c.3076C > T

p. Arg1026X

Nonsense

Haploinsufficiency

 

F

F26

IV

Exon 44

c.3124_3134del11

 

Frameshift

Haploinsufficiency

Yes

S

F27

IV

Exon 47

c.3505G > A

p. Gly1169Ser

Missense

Helical

 

S

F28

III

Exon 52

c.4308_4309insA

 

Frameshift

Haploinsufficiency

 

S

  1. OI osteogenesis imperfecta