Type II collagenopathies

Definition:

Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by reduced collagen content in cartilage (Kniest dysplasia).

References:

[1]. Andreas Zankl, et al. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. [Content Brief]

[2]. Anthony M Reginato, et al. The role of structural genes in the pathogenesis of osteoarthritic disorders. Arthritis Res. 2002;4(6):337-45. [Content Brief]

[3]. C A Francomano, et al. Bone dysplasias in man: molecular insights. Curr Opin Genet Dev. 1996 Jun;6(3):301-8. [Content Brief]

[4]. Peter Kannu, et al. Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health. 2012 Feb;48(2):E38-43. [Content Brief]

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