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Article

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

PloS one - 1 Jan 2013

Zhang Feng, Liang Jinlong, Guo Xiong, Zhang Yingang, Wen Yan, Li Qiang, Zhang Zengtie, Ma Weijuan, Dai Lanlan, Liu Xuanzhu, Yang Ling, Wang Jun

Abstract excerpt

Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutations. In this study, exome sequencing followed by Sanger sequencing validation was first used to screen gene mutations in two representative MO patients from a...

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Identifiers

PMID: 24009674
DOI: 10.1371/journal.pone.0072316
PMCID: PMC3757002

Genes

EXT1

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Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.PMID 24009674Read ↗

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Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.Semantic proximity Read ↗

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

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

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