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Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias

Lookup NU author(s): Professor John LoughlinORCiD

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Abstract

The chondrodysplasias are characterised by the abnormal development of articulating joints and bone. Mutations in the COL2A1 and COL10A1 genes, which encode the cartilage collagens type II and type X, have been identified in a variety of inherited chondrodysplasias. However, both genes have also been excluded as the mutant loci in several chondrodysplasia pedigrees, indicating the existence of at least one other chondrodysplasia locus. We report the exclusion of the genes encoding two cartilage-specific proteins, the cartilage link protein and the cartilage matrix protein, in several chondrodysplasia pedigrees in which COL2A1 had previously been excluded as the mutant locus.

Publication metadata

Author(s): Loughlin J, Irven C, Sykes B

Publication type: Article

Publication status: Published

Journal: Human Genetics

Year: 1994

Volume: 94

Issue: 6

Pages: 698-700

Print publication date: 01/12/1994

ISSN (print): 0340-6717

Publisher: Springer

URL: https://doi.org/10.1007/BF00206966

DOI: 10.1007/BF00206966

Notes: Journal Article Research Support, Non-U.S. Gov't Germany

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