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

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

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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
Pages (from-to)420-424
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume44
Issue number4
DOIs
StatePublished - Nov 6 1992
Externally publishedYes

Fingerprint

Collagen Type II
Proteoglycans
Genes
Cartilage
Pseudoachondroplasia
link protein
Phenotype
Mutation

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. / Hecht, J. T.; Blanton, Susan H; Wang, Y.; Daiger, S. P.; Horton, W. A.; Rhodes, C.; Yamada, Y.; Francomano, C. A.

In: American Journal of Medical Genetics, Vol. 44, No. 4, 06.11.1992, p. 420-424.

Research output: Contribution to journalArticle

Hecht, J. T. ; Blanton, Susan H ; Wang, Y. ; Daiger, S. P. ; Horton, W. A. ; Rhodes, C. ; Yamada, Y. ; Francomano, C. A. / Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. In: American Journal of Medical Genetics. 1992 ; Vol. 44, No. 4. pp. 420-424.
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