COL1A2

Osteogenesis Imperfecta in Children Every week in the popular medical drama, “Grey’s Anatomy,” written by Shonda Rhimes, there is some sort of interesting case of a rare condition that makes for good television. For Doctor April Kepner and Doctor Jackson Avery that is finding out they are expecting a baby who is diagnosed with Type II osteogenesis imperfecta. They were told that their baby was suffering from this disease even from inside the womb. Osteogenesis imperfecta, or “brittle bones disease,” is a rare disease affecting nearly 1 in every 30,000 live births in the United States. This paper is being written in hopes of answering 3 questions: What is osteogenesis imperfecta? What is the developmental impact of OI? And what is it that causes birth defects such as OI and other diseases? What is Osteogenesis imperfecta? Osteogenesis imperfecta, also referred to as OI or brittle bones disease, is simply defined as a disorder that causes the carrier to have extremely fragile bones that break by even the slightest touch. According to an article, osteogenesis imperfecta “rare genetic disorder that in the large majority of cases is caused by mutations in genes that code for collagen type I” Brittle bones disease is a relatively rare disease affecting close to 1 in every 30,000 live births or 1 in every 60,000 live births for OI Type II. There are 4 different genes that produce the collagen needed for healthy bone development. These genes, if defective, can cause 8…

OI, about half of the patients diagnosed with OI are diagnosed with Type I. This disease is sometimes hereditable which means that it is passed down from generation to generation. According to an online article in Genetics Home Reference web site, “It has and autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.”- (2013). This disease can also result from a random mutation in one of the genes of the individual.…

difficulties exacerbated by underdeveloped lungs. Infants diagnosed with Type II Osteogenesis Imperfecta may survive a few days to weeks, but many do not live beyond that point due to the respiratory complications. The genetic mutation accompanying this type occurs in the COL1A1 or COL1A2 gene and results in improperly formed collagen (Fast Facts- Osteogenesis Imperfecta Foundation, 2016). Type III Osteogenesis Imperfecta is the most severe form among children who survive the neonatal period.…

associated with osteogenesis imperfecta is a point mutation that happens within those glycine amino acid residues at either the COL1A1 or COL1A2 genes. Cells that contain such a mutation create a mix of normal and abnormal collagen. Severity of the phenotype that arises from this varies from extremely mild to lethal based on which polypeptide chain is affected, the place on the triple helix the nucleotide substitution occurs, and which amino acid replaces glycine (Rauch et al., 2004). Currently,…

since ancient times. OI has been recognized in an Egyptian mummy of an infant dating back to around 1000 BC. The mummy is currently in the British Museum in London, England. OI is caused by a mutation in a gene (change) that effects the bone formation, bone strength, and the structure of other tissues. It is a lifelong disorder. Frequent broken bones is expected with someone living with OI from birth through puberty. The frequency decreases through the young adult years but is possible to…

rare disease with less than twenty thousand cases a year. As of today there is no known available cure, but there are treatments available to lessen the symptoms of the disease. This is a chronic illness that can last up to a few months, to lasting a person’s entire lifetime. This is a disease that causes extreme fragility in the bones of a normal person. This could make a person’s life extremely difficult because it could turn a minor accident such as a trip, into an emergency room visit…

Etiology Osteogenesis imperfecta is caused by one of several genes that aren’t working properly. Each of the genes that cause OI plays a role in how the body makes collagen. Collagen is a material in bones that helps make them strong and not break or fall apart. When these genes are not working properly, there is not enough collagen, or the collagen does not work properly. This lack of collagen leads to weak bones that break easily. Most children inherit the Osteogenesis imperfecta gene from one…

pattern that is mesh like, or scaly; only a handful of people are known to be classified under these two groups. The last two types, seven and eight affect collagen formation and are still being studied since the discovery in 2006. Determining if a person has Osteogenesis imperfecta is a simple process because in most cases the genes are passed down from a parent. Looking into family history can help when diagnosing new patients. Another way a patient is diagnosed is when X- rays are taken…