Marfan Syndrome

Reference work entry

Marfan syndrome (MFS) is an inherited connective tissue disorder, noteworthy for its worldwide distribution, relatively high prevalence, clinical variability, and pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems, some of which are life threatening. Its estimated frequency is 2–3 per 10,000 individuals.

Genetics/Basic Defects

  1. 1.
    Inheritance
    1. a.

      Autosomal dominant

       
    2. b.

      New mutation in about 25–30% of the cases

       
    3. c.

      About 70–75% of individuals diagnosed with Marfan syndrome have an affected parent.

       
     
  2. 2.

    Caused by a wide variety of mutations in the fibrillin-1 (FBN1) gene located on chromosome 15q21.1

     
  3. 3.

    Molecular defects in the fibrillin gene are responsible for the impaired structural integrity of the skeletal, ocular, and cardiovascular systems.

     
  4. 4.

    Almost all mutations are specific (unique) to a particular individual or family.

     
  5. 5.

    FBN1mutation is helpful diagnostically only if it has been previously found in the person who...

Keywords

Fatigue Retina Glaucoma Refraction Phenylalanine 

References

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