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

Orthopaedic surgery - 1 Jun 2020

Liang Chao, Wang Yong-Jie, Wei Yu-Xuan, Dong Yang, Zhang Zhi-Chang

Abstract excerpt

OBJECTIVE: To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME). METHODS: The study recruited seven families diagnosed with multiple osteochondromas (MO). Family histories and clinical information were collected in detail through...

Topics

Adolescent
Adult
Child
Exostoses, Multiple Hereditary
Female
Genotype
Humans
Male
Middle Aged
Mutation
N-Acetylglucosaminyltransferases
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

Exostosin 2

Exostosin 1

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Open in PubMed Open full text

Identifiers

PMID: 32293802
DOI: 10.1111/os.12660
PMCID: PMC7307237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.PMID 32293802Read ↗

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Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.Semantic proximity Read ↗

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Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.Semantic proximity Read ↗

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