A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

David L. Rimoin, I. Merete Rasmussen, Michael D. Briggs, Peter J. Roughley, Helen E. Gruber, Matthew L. Warman, Bjorn R. Olsen, Y. Edward Hsia, Juliet Yuen, Kent Reinker, Ann P. Garber, Judy Grover, Ralph S. Lachman, Daniel H. Cohn

Research output: Contribution to journalArticlepeer-review

37 Scopus citations

Abstract

We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the α1 chain of type XI procollagen, the α1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder.

Original languageEnglish (US)
Pages (from-to)236-242
Number of pages7
JournalHuman Genetics
Volume93
Issue number3
DOIs
StatePublished - Mar 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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