Marfan Syndrome: The Case of Joey Jones

This condition is inherited by autosomal dominant inheritance. Judging from the family history of the proband, the mutation seems to be inherited from the family's father. Families 75% of MFS patients suffer from parents. 25% of MFS patients suffer from this disease due to a new mutation. If the proband is diagnosed as MFS, it is recommended that parents be evaluated. If one of the proband's parents is diagnosed with MFS, the risk of each proband's brother is 50%.

Marfan syndrome is an inherited disorder affecting connective tissue in the body. Connective tissue forms the majority of bone, cartilage, tendons and ligaments. Dr. Ma Fan encountered Marfan syndrome for the first time in 1896. This disease has developed in one out of 10,000 newborns, and currently has about 40,000 Americans onset. In Marfan syndrome, genetic mutation causes defects in fibrillin production. Fibrin is the main component of connective tissue. Patients with Marfan syndrome suffer from many different problems due to their fibrinogenicity problem

For centuries, some people may have Marfan syndrome. Most people ask, "What is Marfan syndrome?" Or "I have Marfan syndrome", our scientist answered questions about Marfan syndrome. Marfan syndrome is a hereditary disorder affecting connective tissue. Some of the substances that bind or provide connective tissue are substances that support tendons, ligaments, vessel walls, cartilage, heart valves, and many other structures. In 1896, when French doctor Antoine Marfan was sick, I found a Marfan syndrome. As a 14-year old boy (patient), he wants to be a basketball champion forever or at least as a player, but his coach does not like him, a 14-year old boy went to see Dr. Ma Fan It was. The doctor did not see it at first, but eventually he saw the problem. The little boy has a height of 6 feet or more. He is very thin, his arms, legs and fingers are very long.

Marfan syndrome is a connective tissue disease. According to the National Mafan Foundation, symptoms and signs include long arms and fingers, curved spine (also known as scoliosis), chest subduction or protruding chest, excessively flexible joints, flat feet, congestion And so on. Skin teeth and unknown stretch mark. This syndrome often causes vision problems, asthma and sudden pulmonary collapse, and a problem that weakens the heart. The most serious and fatal is aortic dissection: tear of the text of the heart tissue layer

It is Marfan syndrome. Everyone and that mother knows that. I am tall and thin. My fingers are thin and my lens is dislocated. I was diagnosed that my mother died of aortic dissection. I am almost a textbook case of Marfan syndrome. Believe me, I have a lot of textbooks - I majored in genetics and taught genetics at graduate school. At that moment I finally came to see a geneticist. I mainly decided to conduct genetic testing for curiosity. I am convinced what the outcome will be: a mutation in the FBN1 gene. According to all sources - Wikipedia, my various textbooks, reference by geneticists at the National Institutes of Health - "FBN1 gene mutation causes Marfan syndrome." Anyway, as I still claim this syndrome, I Any mutant that you know is cool?