Table 3 The relationship between OI type and mutated genes and mutation types
From: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
Mutated genes and mutation types | OI type | ||
|---|---|---|---|
I | III | IV | |
COL1A1 (n = 28) | 13 (46 %) | 4 (14 %) | 11 (39 %) |
COL1A2 (n = 9) | 3 (33 %) | 1 (11 %) | 5 (56 %) |
Helical mutation (n = 15) | 4 (27 %) | 4 (27 %) | 7 (47 %) |
Haploinsufficiency (n = 21) | 12 (57 %) | 1 (5 %) | 8 (38 %) |