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

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

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

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
Volume63
Issue number6
DOIs
Publication statusPublished - 1998

Fingerprint

Collagen Type X
Mutation
Genes
Phenotype
Enchondromatosis
Missense Mutation
Strudwick syndrome
DNA Sequence Analysis
Transgenic Mice
Spine
Bone and Bones

ASJC Scopus subject areas

  • Genetics

Cite this

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. / Ikejawa, Shiro; Nishimura, Gen; Nagai, Toshiro; Hasegawa, Tomonobu; Ohashi, Hirofumi; Nakamura, Yusuke.

In: American Journal of Human Genetics, Vol. 63, No. 6, 1998, p. 1659-1662.

Research output: Contribution to journalArticle

Ikejawa, Shiro ; Nishimura, Gen ; Nagai, Toshiro ; Hasegawa, Tomonobu ; Ohashi, Hirofumi ; Nakamura, Yusuke. / Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. In: American Journal of Human Genetics. 1998 ; Vol. 63, No. 6. pp. 1659-1662.
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