The type II collagenopathies: A spectrum of chondrodysplasias
- 1 February 1994
- journal article
- review article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 153 (2) , 56-65
- https://doi.org/10.1007/bf01959208
Abstract
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondylo-epiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthro-opthalmopathy and mild dominant spondyloarthropathy. The mutations are expressed in the heterozygous state, and inheritance of type II collagenopathies is autosomal dominant. The wide range of clinical manifestations is not well understood but characterization of the basic defect may provide clues to establish specific genotype-phenotype correlations.Keywords
This publication has 62 references indexed in Scilit:
- Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasiaPediatric Radiology, 1994
- A type X collagen mutation causes Schmid metaphyseal chondrodysplasiaNature Genetics, 1993
- An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.Journal of Clinical Investigation, 1993
- A Fourth Example Suggests That Premature Termination Codons in the COL2A1 Gene Are a Common Cause of the Stickler Syndrome: Analysis of the COL2A1 Gene by Denaturing Gradient Gel ElectrophoresisGenomics, 1993
- A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe OsteochondrodysplasiaGenomics, 1993
- Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defectNature Genetics, 1993
- Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain.The Journal of cell biology, 1992
- Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild ChondrodysplasiaNew England Journal of Medicine, 1990
- PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENEThe Lancet, 1989
- Heritable Diseases of CollagenNew England Journal of Medicine, 1984