Article
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
Human molecular genetics - 1 Aug 2015
Jensen Sacha A, Iqbal Sarah, Bulsiewicz Alicja, Handford Penny A
Abstract excerpt
Fibrillin-1 is the major component of the 10-12 nm diameter extracellular matrix microfibrils. The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disorder characterised by tall stature, ocular and cardiovascular defects. Recently, stiff skin syndrome (SSS) and a group of syndromes known collectively as the acromelic dysplasias, which...
Topics
- Contracture
- Dwarfism
- Extracellular Matrix
- Fibrillin-1
- Fibrillins
- Humans
- Marfan Syndrome
- Microfibrils
- Microfilament Proteins
- Mutation
- Skin Diseases, Genetic