19. Fibrillin-1
• Fibrillin-1 is a protein that in humans is
encoded by the FBN1 gene, located on
chromosome 15.
• It is a large, extracellular matrix
glycoprotein that serves as a structural
component of 10-12 nm calcium-binding
microfibrils.
20. Marfan syndrome
• Marfan syndrome (MFS) is a multi-systemic
genetic disorder that affects the connective
tissue.
• Those with the condition tend to be tall and
thin, with long arms, legs, fingers, and toes.
They also typically have overly-flexible joints
and scoliosis.
21. Marfan syndrome features
• Tall and slender build.
• Disproportionately long arms, legs and fingers.
• A breastbone that protrudes outward or dips
inward.
• A high, arched palate and crowded teeth.
• Heart murmurs.
• Extreme nearsightedness.
• An abnormally curved spine.
• Flat feet.
22. Causes
• Marfan syndrome is caused by a mutation in a
gene called FBN1. The mutation limits the
body's ability to make proteins needed to
build connective tissue.
• One in four people with Marfan syndrome
develops the condition for unknown reasons.
A person with Marfan syndrome has a 1 in 2
chance of passing it on to their child
