Types
There are eight different types of OI, Type I being the most common, though the symptoms vary from person to person.
| Type | Description | Gene | OMIM | Mode of Inheritance |
| I | mild | Null COL1A1 allele | 166240 (IA), 166200 (IB) | autosomal dominant, 60% de novo |
| II | severe and usually lethal in the perinatal period | COL1A1, COL1A2, | 166210 (IIA), 610854 (IIB) | autosomal dominant, ~100% de novo |
| III | considered progressive and deforming | COL1A1, COL1A2 | 259420 | autosomal dominant, ~100% de novo |
| IV | deforming, but with normal scleras | COL1A1, COL1A2 | 166220 | autosomal dominant, 60% de novo |
| V | shares the same clinical features of IV, but has unique histologic findings ("mesh-like") | unknown | 610967 | autosomal dominant |
| VI | shares the same clinical features of IV, but has unique histologic findings ("fish scale") | unknown | 610968 | unknown |
| VII | associated with cartilage associated protein | CRTAP | 610682 | autosomal recessive |
| VIII | severe to lethal, associated with the protein leprecan | LEPRE1 | 610915 | autosomal recessive |
Read more about this topic: Osteogenesis Imperfecta
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