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Article

Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society - 1 Sept 2013

Wu Yuhong, Xing Xuesha, Xu Shaonian, Ma Hongwei, Cao Lihua, Wang Shusen, Luo Yang

Abstract excerpt

Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder caused by heterozygous germline mutations in the exostonsin-1 (EXT1) or exostosin-2 (EXT2) genes. In this study, we screened mutations in the EXT1/EXT2 genes in four Chinese MO kindreds by direct sequencing. Three point mutations were detected, including a nonsense mutation in the EXT2 gene (c.544C > T) and two splice site mutations in the...

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Identifiers

PMID: 23629877
DOI: 10.1002/jor.22378

Genes

EXT2
EXT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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