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Article

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.

Oncology reports - 1 Feb 2014

Cao Li, Liu Fei, Kong Mingxiang, Fang Yong, Gu Haifeng, Chen Yu, Zhao Chen, Zhang Shuijun, Bi Qing

Abstract excerpt

Hereditary multiple exostoses (HME) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors. EXT1 located on chromosome 8q23-q24 and EXT2 located on 11p11-p12 are the main disease-causing genes which are responsible for ~90% of HME cases. Mutations of EXT1 or EXT2 result in insufficient heparan sulfate biosynthesis, which facilitates chondrocyte...

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Source

Identifiers

PMID: 24297320
DOI: 10.3892/or.2013.2891

Genes

EXT1
EXT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.PMID 24297320Read ↗

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Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.Semantic proximity Read ↗

Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation SpectrumSemantic proximity Read ↗

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.Semantic proximity Read ↗

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfateSemantic proximity Read ↗

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.Semantic proximity Read ↗

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.Semantic proximity Read ↗

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Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.Semantic proximity Read ↗

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