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Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, the walls of blood vessels, and heart valves. It is caused by a mutation in fibrillin, which decreases fibrillin production and increases TGF-B production. 90-95% of people with Marfan syndrome are able to identify their mutation on FBN1. The other 5-10% may have a mutation on another gene that affects the production of fibrillin which we have not yet discovered.
Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall (as compared to unaffected family members) and slender, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth, crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of all people with Marfan syndrome have vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur early on, even in childhood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.
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Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?
The FBNI gene encodes for a protein called fibrillin-1, mutations of which are associated with Marfan syndrome. However, there are other genes also implicated in Marfan syndrome. Therefore, diagnosing Marfan syndrome solely based on FBNI gene mutations may not capture the full spectrum of genetic variations that can cause the condition. A comprehensive genetic testing panel is usually needed for an accurate diagnosis.
The inheritance of Marfan syndrome is an example of what?
Pleiotropy.
The inheritance of Marfan syndrome is an example of?
The "autosomal dominant" method of inheritance. if your question as Marfan syndrome is the result of inheriting a single allele. Individuals with Marfan syndrome are tall and long-limbed, and have both cardiovascular and eye defects. The inheritance of Marfan syndrome is an example of ______. then the answer is pleiotropy
Is marfan syndrome a genetic disease?
Yes, Marfan syndrome is a genetic disorder. It is not a disease. It is caused by a mutation in fibrillin and is an autosomal dominant mutation. This means that if you have a Marfan causing mutation, you have Marfan, and you have a 50/50 chance of passing it on to any children you may have. Severity of Marfan can vary within a family, even though all affected family members have the same mutation. It can not skip generations.
Is gene therapy a possiblilty for marfan's syndrome?
Gene therapy is being explored as a potential treatment for Marfan syndrome, as it has the potential to correct the underlying genetic mutation that causes the condition. However, further research is needed to determine its safety and efficacy before it can become a standard treatment option for Marfan syndrome.
What is a Marfan Syndrome?
marfan syndrome is genetic disorder of connective tissue of the body. it cause a mutation of the gene that produces the protein fibrillin.
What important genetic characteristic does Marfan syndrome have?
Another important genetic characteristic of Marfan syndrome is variable expression.
Is marfan syndrome genetic?
yes
When can you get marfan syndrome?
Anyone can get Marfans syndrome, it is a genetic disorder.
When was the mutation responsible for Marfan syndrome discovered?
The genetic mutation responsible for Marfan was discovered in 1991.
How common is marfan syndrome?
Marfan's syndrome is the most common genetic disorder of connective tissue. It occurs in about every 10,000 to 20,000 individuals.
What has the author O V Lisichenko written?
O. V. Lisichenko has written: 'Sindrom Marfana' -- subject(s): Genetic aspects, Genetic aspects of Marfan syndrome, Marfan syndrome
What is marfansyndrome?
Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers.
Is Marfan's symdrome a transmitted disease?
Marfan's syndrome is a genetic disorder, so one would inherit it from their biological parents. You can't "catch" marfans syndrome
Does Marfan syndrome have a treatment?
While there is no cure for Marfan Syndrome (because it is a genetic disorder), there are ranges of treatment options can decrease (and even sometimes prevent) complications.
Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?
The FBNI gene encodes for a protein called fibrillin-1, mutations of which are associated with Marfan syndrome. However, there are other genes also implicated in Marfan syndrome. Therefore, diagnosing Marfan syndrome solely based on FBNI gene mutations may not capture the full spectrum of genetic variations that can cause the condition. A comprehensive genetic testing panel is usually needed for an accurate diagnosis.
Is Marfan Syndrome common in a specific race?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
