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Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function of fibrillin-1.
The precise reasons for the mutations are unknown. How the mutation manifests as the Marfan syndrome is also uncertain. There is mounting evidence that the fibrillin-1 defect allows for unabated activity of transforming growth factor-beta (TGF-beta), which causes the clinical manifestations of the syndrome (eg, hyperextensible joints, arachnodactyly, dislocation of the lens, aortic aneurysm).
Because the condition is inherited in an autosomal dominant pattern, a parent with Marfan syndrome has a 50% chance of passing the defective gene on to his/her offspring.
Some diseases are also associated with features that resemble Marfan syndrome. For example, multiple endocrine neoplasia (MEN) type III is associated with what's been called a marfanoid habitus -- patients commonly have the elongated axial bones and hyperextensible joints seen in true Marfan syndrome. MEN-III is caused by a mutation in the RET gene on chromosome 10. It is inherited in an autosomal dominant pattern.
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∙ 8y ago
Wiki User
∙ 8y agoAutosomal dominant.
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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 are the chances of getting marfan syndrome?
Marfan syndrome is found in 1 in every 5,000 - 10,000 births. If one of your parents has Marfan syndrome, you have a 50% chance of having Marfan syndrome.
Which president had Marfan's Syndrome?
Abraham Lincoln was thought to have Marfan syndrome. This has not been proven however, and many researchers think he may have had a different disorder instead.
Is marfan syndrome automsomal dominant?
Yes, Marfan syndrome is autosomal dominant.
What does Marfan syndrome mean?
Marfan Syndrome is a medical problem with the Conective Tissue.
Can people with Marfan syndrome fly in an airplane?
Yes. A person with Marfan syndrome should have no problem flying in a commercial aircraft. Flights in an unpressurized aircraft are not recommended though, because the changes in altitude can cause a collapsed lung (pneumothorax), a particular risk for people with Marfan syndrome.
If joe has the marfan syndrome and has a child some day what are the probaliblities that his chaild will have marfan?
There is a 100% probability of his child having Marfan's syndrome. The syndrome is carried by the FBN1 gene, and is dominant so there is no way to avoid having the disease. However the severity of it may vary from mild to severe, so his child may suffer from a mild form of the syndrome.
Is Marfan syndrome contagious?
Marfan's syndrome is not contagious. A person can only get it by inheriting it from a parent.
Is Down Syndrome the same as Marfan Syndrome?
No. Down is caused by an extra chromosome while Marfan is due to a mutation in one or more genes.
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
What can be some symptoms for Marfan's syndrome?
flat feet an sinked chest are some symptomes of marfan syndrome
What effects can marfan syndrome have on a persons life?
They cant exercise as vigorously as someone without Marfan syndrome
