Chromosomal mutation of a Marfan Syndrome patient

25% of affected individuals are affected by a new mutation, the other 75% get the mutated gene from their parents.  This mutation is a mutation in the fibrillin-1 gene located on chromosome 15.  This gene encodes for the glycoprotein fibrillin, a major building block for microfibrils, which serves as a substrate for elastin in the aorta and other connective tissues.  Deficient fibrillin causes reduced structural integrity of the ligaments, spinal dura, lung airways and dilation of the aorta.



Chen, Harold. "Genetics of Marfan Syndrome." Emedicine. Web. 12 Mar. 2011. <http://emedicine.medscape.com/article/946315-overview>.