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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

Nature Genetics volume 5, pages 79–82 (1993)Cite this article

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.

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Authors and Affiliations

  1. Department of Anatomy and Cellular Biology, Harvard Medical School, 220 Longwood Avenue, Boston, Massachusetts, 02115, USA

    Matthew L. Warman, Suneel S. Apte & Bjorn R. Olsen

  2. Center for Medical Genetics, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, Maryland, 21287, USA

    Margaret Abbott, Tim Hefferon, Iain McIntosh & Clair A. Francomano

  3. Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center and Department of Pediatrics, UCLA School of Medicine, Los Angeles, California, 90048, USA

    Daniel H. Cohn

  4. Department of Pediatrics, University of Texas Health Sciences Center, Houston, Texas, 77030, USA

    Jacqueline T. Hecht

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Warman, M., Abbott, M., Apte, S. et al. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nat Genet 5, 79–82 (1993). https://doi.org/10.1038/ng0993-79

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