19. Fibrillin-1
โข Fibrillin-1 is a protein that in humans is
encoded by the FBN1 gene, located on
chromosome 15.
โข It is a large, extracellular matrix
glycoprotein that serves as a structural
component of 10-12 nm calcium-binding
microfibrils.
20. Marfan syndrome
โข Marfan syndrome (MFS) is a multi-systemic
genetic disorder that affects the connective
tissue.
โข 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
โข Tall and slender build.
โข Disproportionately long arms, legs and fingers.
โข A breastbone that protrudes outward or dips
inward.
โข A high, arched palate and crowded teeth.
โข Heart murmurs.
โข Extreme nearsightedness.
โข An abnormally curved spine.
โข Flat feet.
22. Causes
โข 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.
โข 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
