Research Paper: Osteogenesis Imperfecta
What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta is a genetic brittle bone disorder. The disorder is characterized by bones that easily break, due to little or no apparent cause. A classification system of several different types of Osteogenesis Imperfecta is used to diagnose just how severely a person with Osteogenesis Imperfecta is affected. The severity of Osteogenesis Imperfecta varies from case to case, even among cases of the same type of OI and also even within the same family. The majority, possibly 85%-90%, of cases, types I-IV, are caused by a dominate mutation in a gene coding for type 1 collagen. Types VII and VIII, are recessive and the gene mutation has been identified, while types …show more content…
Type VII can resembles Type IV or Type II in appearance and symptoms. Unlike Type II, infants have white sclera, a small head and round face. Type VII’s recessive inheritance is from a mutation to CRTAP, cartilage-associated protein, gene. The partial functioning of CRTAP lead to only moderate cases but if the CRTAP is not functioning at all, the absence is lethal. Although Type VII and Type VIII are both recessive they do not always resemble the same previous types. While Type VII resembles either Type IV or Type II, as mentioned above, Type VIII resembles either Type II or Type III. The infants, like in Type VII, also have white sclera. Type VIII brings severe growth deficiency and extreme skeletal under mineralization. Type VIII is caused by a deficiency of P3H1, Prolyl 3-hydroxylase 1, due to a mutation in the LEPRE1 gene.
How do you diagnose Osteogenesis Imperfecta? Osteogenesis Imperfecta is caused by genetic defects that affect the body’s ability to make strong bones. It is often possible to diagnose OI based just on clinical features, but not always. Geneticists can perform biochemical, collagen, or molecular, DNA, tests that can help confirm a diagnosis of OI in some situations. Both tests are thought to detect almost 90 percent of all type I collagen mutations. Even if the collagen test is negative that does not rule out the chance of having OI. The patient may have a recessive form of OI or a form of OI that is not linked with type 1 collagen
What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta is a genetic brittle bone disorder. The disorder is characterized by bones that easily break, due to little or no apparent cause. A classification system of several different types of Osteogenesis Imperfecta is used to diagnose just how severely a person with Osteogenesis Imperfecta is affected. The severity of Osteogenesis Imperfecta varies from case to case, even among cases of the same type of OI and also even within the same family. The majority, possibly 85%-90%, of cases, types I-IV, are caused by a dominate mutation in a gene coding for type 1 collagen. Types VII and VIII, are recessive and the gene mutation has been identified, while types …show more content…
Type VII can resembles Type IV or Type II in appearance and symptoms. Unlike Type II, infants have white sclera, a small head and round face. Type VII’s recessive inheritance is from a mutation to CRTAP, cartilage-associated protein, gene. The partial functioning of CRTAP lead to only moderate cases but if the CRTAP is not functioning at all, the absence is lethal. Although Type VII and Type VIII are both recessive they do not always resemble the same previous types. While Type VII resembles either Type IV or Type II, as mentioned above, Type VIII resembles either Type II or Type III. The infants, like in Type VII, also have white sclera. Type VIII brings severe growth deficiency and extreme skeletal under mineralization. Type VIII is caused by a deficiency of P3H1, Prolyl 3-hydroxylase 1, due to a mutation in the LEPRE1 gene.
How do you diagnose Osteogenesis Imperfecta? Osteogenesis Imperfecta is caused by genetic defects that affect the body’s ability to make strong bones. It is often possible to diagnose OI based just on clinical features, but not always. Geneticists can perform biochemical, collagen, or molecular, DNA, tests that can help confirm a diagnosis of OI in some situations. Both tests are thought to detect almost 90 percent of all type I collagen mutations. Even if the collagen test is negative that does not rule out the chance of having OI. The patient may have a recessive form of OI or a form of OI that is not linked with type 1 collagen