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One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Genetic testing - 1 Dec 2008

Kojima Hirofumi, Wada Takahito, Seki Hiroshi, Kubota Takeo, Wakui Keiko, Fukushima Yoshimitsu

Abstract excerpt

Multiple osteochondromas (MO; also referred to as hereditary multiple exostoses [HME] in the literature) is an autosomal dominant disorder characterized by benign, cartilage-capped bone tumors that grow from the metaphyses of long bones. Two genes are associated with this disease: EXT1 on 8q24.11-q24.13 and EXT2 on 11p12-p11. Mutations in EXT1 and EXT2 are found in 54-96% of patients with MO and are generally...

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Identifiers

PMID: 18976157
DOI: 10.1089/gte.2008.0048

Genes

EXT1
EXT2

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One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.PMID 18976157Read ↗

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromasSemantic proximity Read ↗

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Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.Semantic proximity Read ↗

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.Semantic proximity Read ↗

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromasSemantic proximity Read ↗

Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.Semantic proximity Read ↗

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Novel mutation of EXT2 identified in a large family with multiple osteochondromas.Semantic proximity Read ↗

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.Semantic proximity Read ↗

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