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Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.

The Tohoku journal of experimental medicine - 1 Jul 2017

Guo Xiaoyan, Lin Mingrui, Shi Tengfei, Yan Wei, Chen Wenxu

Abstract excerpt

Multiple osteochondromas (MO) is one of the most common benign bone tumors in humans with an autosomal dominant hereditary mode. MO is a genetic heterogeneity disease with variable number and size of osteochondromas, as well as changeable number and location of diseased bones. Mutations in Exostosin-1/Exostosin-2 (EXT1/EXT2) genes are the main molecular basis of MO. EXT1 and EXT2 genes encode exostosin 1 and...

Topics

Adolescent
Base Sequence
Child
Child, Preschool
Female
High-Throughput Nucleotide Sequencing
Humans
Infant
Male
Mutation
N-Acetylglucosaminyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

Exostosin 2

Exostosin 1

Source

Identifiers

PMID: 28690282
DOI: 10.1620/tjem.242.173

Genes

EXT1
EXT2

Variants

Provenance

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

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Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.PMID 28690282Read ↗

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