Marfanův syndrom

Question 1

příčina
dědičnost

Answer 1

• mutation in FBN1,
• fibrillin, which results in abnormal connective tissue.
• autosomal dominant disorder.
• 75% of cases, it is inherited from a parent
• Diagnosis is often based on the Ghent criteria.
• Marfan syndrome has often been confused with Loeys–Dietz syndrome, because of the considerable clinical overlap between the two pathologies.(TGFβR2 gene on chromosome 3, a receptor protein of TGF-β.)

Question 2

patof.

Answer 2

• dominant negative mutation and haploinsufficiency
• variable expressivity; complete penetrance has been definitively documented.
• Fibrillin-1 (glykoprotein)is essential for the proper formation of the extracellular matrix, including the biogenesis and maintenance of elastic fibers
• reduced levels of fibrillin-1 allow TGF-β levels to rise