Marfans Syndrome affecting eyes, skeletal system, and the cardiovascular system is caued by the mutation in the gene
Marfan Syndrome Is Caused by Mutations in the Gene for Fibrillin-1. It is inherited as an autosomal dominant trait. It affects the eyes (eg, causing dislocation of the lens, known as ectopia lentis), the skeletal system (most patients are tall and exhibit long digits and hyperextensibility of the joints), and the cardiovascular system (eg, causing weakness of the aoic media, leading to dilation of the ascending aoa). Abraham Lincoln may have had this condition. Most cases are caused by mutations in the gene (on chromosome 15) for fibrillin-1.Mutations in the fibrillin-1 gene have also been identified as the cause of acromicric dysplasia and geleophysic dysplasia, which are characterized by sho stature, skin thickening, and stiff joints. Congenital contractural arachnodactyly is associated with a mutation in the gene for fibrillin-2.Ref: Harper&;s Biochemistry; 30th edition; Chapter 50; The Extracellular Matrix
Fibrillin 1
Fibrillin 2
Fibulin
Elastin
miscellaneous