A type X collagen mutation causes schmid metaphyseal chondrodysplasia

Matthew L. Warman, Margaret Abbott, Suneel S. Apte, Tim Hefferon, Iain McIntosh, Daniel H. Cohn, Jacqueline T. Hecht, Bjorn R. Olsen, Clair A. Francomano

Research output: Contribution to journalArticlepeer-review

201 Scopus citations


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 frameshifl 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
Issue number1
StatePublished - Sep 1993

ASJC Scopus subject areas

  • Genetics


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