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Table 2 Genetic findings of 9 OI probands with mutations in COL1A2

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

F29

I

Exon 8

c.335G > A

p. Gly112Asp

Missense

Helical

Yes

F

F30

IV

Exon 24

c.1378G > A

p. Gly460Ser

Missense

Helical

 

S

F31

IV

Exon 29

c.1666G > T

p. Gly556Cys

Missense

Helical

Yes

S

F32

IV

Exon 33

c.2018G > A

p. Gly673Asp

Missense

Helical

 

S

F33

I

Exon 37

c.2197G > T

p. Gly733Cys

Missense

Helical

 

F

F34

IV

Exon 37

c.2279G > A

p. Gly760Glu

Missense

Helical

 

F

F35

III

Exon 37

c.2288G > A

p. Gly763Asp

Missense

Helical

 

S

F36

I

Exon 40

c.2531G > A

p. Gly844Asp

Missense

Helical

Yes

F

F37

IV

Exon 51

c.3815G > C

p. Cys1272Ser

Missense

-

Yes

S

  1. OI osteogenesis imperfecta