Tag Archives: ADL16mutation

Mutation Story


Mutation Story
Hi, I’m Marfan. I’m the gene inside Annie’s body. Annie has always been very, very thin. Her ribs are larger than normal, she has problems with her spinal curvature and extremities considerably longer than the average and with equally long and thin fingers. Her face is narrow and long, and her chest that sinks or protrudes. Annie also has vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. But I have something in particular: I do not affect Annie’s intelligence in any way and although their manifestations are somewhat atypical, I am one of the most common genetic syndromes. I am a strange connective tissue disease of the body that affects and causes various changes in bone structures, eyes, lungs and blood vessels, among other things, and it is not my intention to hurt Annie, but that is what I do, for that I was created. It was all caused by defects in a gene called fibrillin-1. This gene plays an important role as a fundamental pillar for the connective tissue in the body. The defect in the gene also causes excessive growth of the long bones of the body. People with this problem ( Annie ) have high stature and long legs and hands. I still do not know how the form of this exaggerated growth occurs. In most cases, I am passed down from parent to child (hereditary). However, up to 30% of patients do not have a family history, which is called “sporadic”, and this is the case Annie. In sporadic cases, it is believed that the syndrome is caused by a new genetic change.  Advances have been made in the early diagnosis and treatment of Marfan syndrome. It’s now possible for Annie who have Marfan syndrome to live longer and enjoy a good quality of life. Because Annie was properly diagnosed and treated, she may live an average lifespan.

Image result for sindrome de marfanImage result for marfan syndromeImage result for marfan syndromeImage result for marfan syndrome

-What are the main symptoms of Marfan syndrome?
-What is the treatment that one should follow when having a certain syndrome?
-What are the main characteristics of a person with Marfan syndrome?
-How do you get Marfan syndromes?
-Affects this syndrome on the child’s learning?                                                                                                                                  -How long do you live if you have Marfan syndrome?


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