A type X collagen mutation causes schmid metaphyseal chondrodysplasia

M. L. Warman, M. Abbott, S. S. Apte, T. Hefferon, I. McIntosh, D. H. Cohn, J. T. Hecht, B. R. Olsen, Clair Ann Francomano

Research output: Contribution to journalArticle

Abstract

The expression of type X collagen is restricted to hypertrophic chondrocytes in regions undergoing endochondral ossification, such as growth plates. The precise function of type X collagen is unknown but the tissue- specific expression prompted us to examine the gene in hereditary disorders of cartilage and bone growth (osteochondrodysplasias). We have identified a 13 base pair deletion in one type X collagen allele segregating with autosomal dominant Schmid metaphyseal chondrodysplasia in a large Mormon kindred (lod score= 18.2 at θ = 0). The mutation produces a frameshift which alters the highly conserved C-terminal domain of the α1(X) chain and reduces the length of the polypeptide by nine residues. This mutation may prevent association of the mutant polypeptide during trimer formation, resulting in a decreased amount of normal protein.

Original languageEnglish (US)
Pages (from-to)79-82
Number of pages4
JournalNature Genetics
Volume5
Issue number1
DOIs
StatePublished - 1993

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Enchondromatosis
Collagen Type X
Mutation
Church of Jesus Christ of Latter-day Saints
Osteochondrodysplasias
Lod Score
Peptides
Growth Plate
Bone Development
Chondrocytes
Osteogenesis
Base Pairing
Cartilage
Alleles
Genes
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., ... Francomano, C. A. (1993). A type X collagen mutation causes schmid metaphyseal chondrodysplasia. Nature Genetics, 5(1), 79-82. https://doi.org/10.1038/ng0993-79

A type X collagen mutation causes schmid metaphyseal chondrodysplasia. / Warman, M. L.; Abbott, M.; Apte, S. S.; Hefferon, T.; McIntosh, I.; Cohn, D. H.; Hecht, J. T.; Olsen, B. R.; Francomano, Clair Ann.

In: Nature Genetics, Vol. 5, No. 1, 1993, p. 79-82.

Research output: Contribution to journalArticle

Warman, ML, Abbott, M, Apte, SS, Hefferon, T, McIntosh, I, Cohn, DH, Hecht, JT, Olsen, BR & Francomano, CA 1993, 'A type X collagen mutation causes schmid metaphyseal chondrodysplasia', Nature Genetics, vol. 5, no. 1, pp. 79-82. https://doi.org/10.1038/ng0993-79
Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH et al. A type X collagen mutation causes schmid metaphyseal chondrodysplasia. Nature Genetics. 1993;5(1):79-82. https://doi.org/10.1038/ng0993-79
Warman, M. L. ; Abbott, M. ; Apte, S. S. ; Hefferon, T. ; McIntosh, I. ; Cohn, D. H. ; Hecht, J. T. ; Olsen, B. R. ; Francomano, Clair Ann. / A type X collagen mutation causes schmid metaphyseal chondrodysplasia. In: Nature Genetics. 1993 ; Vol. 5, No. 1. pp. 79-82.
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