Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia

J. T. Hecht, S. H. Blanton, Y. Wang, S. P. Daiger, W. A. Horton, C. Rhodes, Y. Yamada, C. A. Francomano

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Patients with pseudoachondroplasia have a skeletal dysplasia with marked short stature. The most common cause of this condition is an autosomal dominant mutation, although autosomal recessive inheritance has been reported. Linkage to 2 cartilage-specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia. Tight linkage to these candidate genes was excluded with LOD scores for COL2A1 of -2.45 at θ = 0.05 and for CRTL1 of -7.28 at θ = 0.001. Discordant inheritance of the disease phenotype with each of these genes was also observed. Thus, these 2 candidate genes can be excluded as the cause of disease in these families.

Original languageEnglish (US)
Pages (from-to)420-424
Number of pages5
JournalAmerican journal of medical genetics
Issue number4
StatePublished - 1992
Externally publishedYes


  • COL2A1
  • CRTL1
  • PCR
  • collagen
  • dwarfism
  • linkage
  • proteoglycan link protein
  • proteoglycans
  • pseudoachondroplasia
  • short stature
  • type II collagen

ASJC Scopus subject areas

  • Genetics(clinical)


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