Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia

Shiro Ikejawa, Gen Nishimura, Toshiro Nagai, Tomonobu Hasegawa, Hirofumi Ohashi, Yusuke Nakamura

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42 Citations (Scopus)


Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A1) is considered an excellent candidate, for two reasons: first, Schmid metaphyseal chondrodysplasia, a condition known to result from COL10A1 mutations, shows a significant phenotypic overlap with SMD; and, second, transgenic mice carrying deletions in type X collagen show SMD phenotypes. Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family. This initial documented identification of a mutation in SMD expands our knowledge concerning the range of the pathological phenotypes that can be produced by aberrations of type X collagen (type X collagenopathy).

Original languageEnglish
Pages (from-to)1659-1662
Number of pages4
JournalAmerican Journal of Human Genetics
Issue number6
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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