Marfan syndrome is a connective tissue disorder. It is cause…

Written by Anonymous on February 13, 2024 in Uncategorized with no comments.


Mаrfаn syndrоme is а cоnnective tissue disоrder. It is caused by mutations in the FBN1 gene, fibrillin-1, which generally results in features including a long, thin face and tall frame, as well as vast issues affecting the heart, eyes, blood vessels, and bones of individuals with the genetic mutation. Jonathan Larson, who wrote the Broadway musical, Rent, had this disorder, although no doctors had identified the source of his chest pain previously. The association of his symptoms with Marfan syndrome had not been made. He passed away suddenly before the opening of the play when his aorta tore open. The protein is abundant in many areas of the body so there is a wide range of symptoms that can result.  The disorder is inherited or the result of a new mutation. To inherit the disorder, one copy of the altered gene is sufficient to cause the disorder. The risk is the same for males and females. Given what you've just learned about the presentation of this genetic disorder, please summarize the genetics of the disorder: This disorder is characterized by [disorder]. A patient who has a parent with the disorder, has a [percent] chance of developing the disorder.

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