Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Abstract

Achondroplasia and pseudoachondroplasia are autosomal dominant skeletal dysplasias resulting in short-limbed dwarfism. Histologic and ultrastructural studies of the cartilage in pseudoachondroplasia and in homozygous achondroplasia have suggested a structural abnormality in chondroitin sulfate proteoglycan (CSPG), a major structural protein in the extra-cellular matrix. The gene encoding CSPG core protein (CSPGCP) is thus a logical "candidate gene" for analysis in these conditions. cDNA probes encoding CSPGCP were used to identify restriction fragment length polymorphisms (RFLPs) in DNA from a panel of control individuals. No gross alterations at the CSPGCP locus were noted in DNA from 37 individuals with achondroplasia and 5 individuals with pseudoachondroplasia. In addition, allelic frequencies of the RFLPs were not significantly different among controls and patients with either condition. In one three-generation family with achondroplasia, close linkage of the CSPGCP locus and the skeletal dysplasia was excluded using a Bgl II polymorphism. Similarly, in a three-generation family with pseudoachondroplasia, the CSPGCP gene was not tightly linked to the disease phenotype. These results indicate that mutations at the chondroitin sulfate proteoglycan core protein locus do not cause achondroplasia or pseudoachondroplasia in these families.

• Authors: J E Finkelstein, K Doege, Y Yamada, R E Pyeritz, J M Graham Jr, J B Moeschler, R M Pauli, J T Hecht, C A Francomano
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 48 Issue 1 Pg. 97-102 (Jan 1991) ISSN: 0002-9297 [Print] United States
• PMID: 1670752 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Aggrecans
• Chondroitin Sulfate Proteoglycans
• Extracellular Matrix Proteins
• Genetic Markers
• Glycoproteins
• Lectins, C-Type
• Proteoglycans
• DNA

Topics

• Achondroplasia (genetics)
• Aggrecans
• Chondroitin Sulfate Proteoglycans (genetics)
• DNA (genetics)
• Extracellular Matrix Proteins
• Female
• Genetic Markers
• Glycoproteins (genetics)
• Humans
• Lectins, C-Type
• Male
• Pedigree
• Polymorphism, Restriction Fragment Length
• Proteoglycans