Kniest dysplasia

Definition:

Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.

References:

[1]. D J Wilkin, et al. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Hum Mol Genet. 1994 Nov;3(11):1999-2003. [Content Brief]

[2]. G R Mortier, et al. A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. Hum Mol Genet. 1995 Feb;4(2):285-8. [Content Brief]

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