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Article

A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society - 1 Nov 2010

Yang Liu, Hui Wing Sum, Chan Wilson C W, Ng Vivian C W, Yam Teresa H Y, Leung Helen C M, Huang Jian-Dong, Shum Daisy K Y, Jie Qiang, Cheung Kenneth M C, Cheah Kathryn S E, Luo Zhoujing, Chan Danny

Abstract excerpt

Multiple osteochondromas (MO) is an autosomal-dominant disorder and mutations in EXT1 and EXT2 account up to 78% of the cases studied, including missense, nonsense, frameshift, and splice-site mutations. EXT1 and EXT2 encode glycosyltransferases required for the synthesis of heparan sulfate (HS) chains. The molecular pathogenesis underlying these mutations is still largely unknown. A heterozygous c.1173 + 1G > T...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exostoses, Multiple Hereditary

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Source

Identifiers

PMID: 20872591
DOI: 10.1002/jor.21162

Genes

EXT2
EXT1

Provenance

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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A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas.PMID 20872591Read ↗

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