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WHAT IS OI?

Source: www.gig.org.uk
Topic: Osteogenesis imperfecta
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Sort Desciption: Osteogenesis (pronounced os-tea-yo-jen-er-sis) Imperfecta is a genetic condition which affects the development of collagen (pronounced koll-er-jen), a protein found in bone, skin and many other tissues in the body. ...

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WHAT IS OI? Osteogenesis (pronounced os-tea-yo-jen-er-sis) Imperfecta is a genetic condition which affects the development of collagen (pronounced koll-er-jen), a protein found in bone, skin and many other tissues in the body. In OI, defective collagen means that the bones are extremely fragile and can fracture as a result of everyday movements (e.g. opening a door or turning over in ones sleep). HOW IS OI PASSED ON? The pattern of inheritance in many families with OI is autosomal dominant. Each and every child of an affected parent has a 50% (1 in 2) chance of inheriting the faulty gene and of having OI. However, there are several hundred different mutations which can give rise to OI and many people with OI have no family history of the condition. Their OI may have occurred as a result of a spontaneous genetic mutation or been inherited in a different way. A PERSON WITH OI MAY BE AFFECTED IN SOME, OR ALL, OF THE FOLLOWING WAYS: of 165 O O s s t t e e o o g g e e n n e e s s i i s s I I m m p p e e r r f f e e c c t t a a ( ( 0 0 1 1 ) ) WHAT IS OI? Osteogenesis (pronounced os-tea-yo-jen-er-sis) Imperfecta is a genetic condition which affects the development of collagen (pronounced koll-er-jen), a protein found in bone, skin and many other tissues in the body. In OI, defective collagen means that the bones are extremely fragile and can fracture as a result of everyday movements (e.g. opening a door or turning over in ones sleep). HOW IS OI PASSED ON? The pattern of inheritance in many families with OI is autosomal dominant. Each and every child of an affected parent has a 50% (1 in 2) chance of inheriting the faulty gene and of having OI. However, there are several hundred different mutations which can give rise to OI and many people with OI have no family history of the condition. Their OI may have occurred as a result of a spontaneous genetic mutation or been inherited in a different way. A PERSON WITH OI MAY BE AFFECTED IN SOME, OR ALL, OF THE FOLLOWING WAYS: ...

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