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Marfan syndrome is caused by a mutation in FBN1, which is fibrillin. There are over 600 known mutations that cause Marfan. It's interesting...most mutations are found in an individual family and no one else in the world. Only 12% of mutations overlap between unrelated people. Because of this, genetic testing is not beneficial unless a person 1) already meets many clinical criteria or 2) has an immediate family member who has tested positive for an FBN1 mutation (so that you know whether it's a disorder causing mutation or a benign mutation, like every person has thousands of). Marfan is autosomal dominant, so if a person has the mutation they have the disorder, and they have a 50% chance of passing it on to their offspring.
There are other disorders that also are caused by FBN1 mutations, such as ectopia lentis and MASS Phenotype. Therefore, clinical criteria is still vital to make a firm diagnosis.
What else can I help you with?
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.
Is the disease marfan syndrome a chromosomal ad normality?
Yes. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
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.
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.
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.
