Table 2.
Participants by genotype and Sillence Type
| Protein affected | Description of defect | Subgroup | Sillence Type (% of total) | N |
|---|---|---|---|---|
| COL1A1 Glycine | Type I Collagen | COL1A1 Glycine | Type III (63.6%) Type IV (36.4%) |
11 |
| COL1A1 Non-Glycine | Type I Collagen | COL Non-Glycine | Type IV (100%) | 4 |
| COL1A2 Glycine | Type I Collagen | COL1A2 Glycine | Type III (12.5%) Type IV (87.5%) | 8 |
| COL1A2 Non-Glycine | Type I Collagen | COL Non-Glycine | Type IV (100%) | 1 |
| SERPINF1 | Collagen-Related Protein -PEDF deficiency | Non-COL | Type VI (100%) | 3 |
| TMEM38B | Collagen-Related Protein – TMEM38B null | Non-COL | Type XIV (100%) | 1 |
| CRTAP | Collagen-Related Protein - CRTAP null | Non-COL | Type VII (100%) | 1 |
| BRILa | Collagen-Related Protein - BRIL missense Het | Non-COL | Type VI (100%) | 1 |
aThis missense variant in IFITM5/BRIL (p.S40L) (30), presents as Type VI, not type V OI. All cases of type V OI are caused by a recurrent variant in BRIL 5’-UTR.