Article
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
Human molecular genetics - 1 Nov 1994
Wilkin D J, Bogaert R, Lachman R S, Rimoin D L, Eyre D R, Cohn D H
Abstract excerpt
Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. Recently, deletions of all or part of exon 12 have been identified in individuals with Kniest dysplasia, suggesting that...
Topics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Collagen
- Exons
- Female
- Humans
- Molecular Sequence Data
- Osteochondrodysplasias
- Phenotype
- Point Mutation