Osteogenesis Imperfecta - Types

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

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