Table 2.

Genetic Mutations in Structural Proteins Leading to Distinct Pathologies

Protein	Disease	Reference
Type I collagen	Osteogenesis imperfecta, Ehlers-Danlos syndrome type VII	234,235
Type II collagen	Several chondrodysplasias, osteoarthritis	236–239
Type III collagen	Ehlers-Danlos syndrome type IV, aortic aneurysms	240,241
Type IV collagen	Kidney fibrosis, Alport syndrome	233,242–244
Type V collagen	Ehlers-Danlos syndrome type I and II	245,246
Type VI collagen	Bethlem myopathy, Ullrich congenital muscular dystrophy	247
Type VII collagen	Epidermolysis bullosa dystrophica	248
Type IX collagen	MED	249
Type X collagen	SMCD and Japanese-type SMD	250,251
Type XV collagen	Cardiac and muscle phenotypes	243
Yype XVII collagen	Growth retardation	243
Type XVIII collagen	Renal filtration defects	243
Elastin	Lung, skin and arterial defects, SVAS, WBS, CL	224,252,253
Laminin	Alport syndrome	233
Biglycan	Cardiovascular disease, osteoporosis	254–256
Biglycan/decorin	Osteopenia and skin fragility	257
Biglycan/fibromodulin	Osteoarthritis	258
Perlecan	Multiple developmental defects and myotonia. Schwartz-Jampel syndrome	243
Nidogen 1 and 2	Lung and kidney development	243
Fibromodulin	Osteoarthritis	259
Lumican/fibromodulin	Joint laxity and impaired tendon integrity	260,261
Lumican	Reduced corneal transparency and skin fragility	262
Decorin	Intestinal tumor; skin fragility; Ehlers-Danlos syndrome-like.	263–265
Mimecan	Colorectal cancer early formation	266
Fibrillin	Marfan syndrome	267
COMP	PSACH and MED	268–270
Matrillin-3	MED	271

 MED, multiple epiphyseal dysplasia; SMCD, Schmid-type metaphyseal chondrodysplasia; SMD, spondylometaphyseal dysplasia; SVAS, supravalvular aortic stenosis; WBS, William-Beuren syndrome; CL, cutis laxa; COMP, Cartilage oligomeric matrix protein; PSACH, pseudoachondroplasia.