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Article

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

American journal of human genetics - 1 Dec 1998

Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y

Abstract excerpt

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...

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Identifiers

PMID: 9837818
DOI: 10.1086/302158
PMCID: PMC1377637

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Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.PMID 9837818Read ↗

Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.Semantic proximity Read ↗

Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.Semantic proximity Read ↗

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.Semantic proximity Read ↗

A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia.Semantic proximity Read ↗

Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.Semantic proximity Read ↗

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.Semantic proximity Read ↗

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaSemantic proximity Read ↗

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.Semantic proximity Read ↗

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasiaSemantic proximity Read ↗

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.Semantic proximity Read ↗

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.Semantic proximity Read ↗

Molecular genetics of chondrodysplasias, including clues to development, structure, and function.Semantic proximity Read ↗

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