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Novel mutation of EXT2 identified in a large family with multiple osteochondromas.

Molecular medicine reports - 1 Nov 2016

Chen Xiao-Jun, Zhang Hong, Tan Zhi-Ping, Hu Wen, Yang Yi-Feng

Abstract excerpt

Multiple osteochondromas (MO), also known as hereditary multiple exostoses, is an autosomal dominant bone disorder. Mutations in exostosin glycosyl transferase‑1 (EXT1) and exostosin glycosyl transferase‑2 (EXT2), including missense, nonsense, frameshift and splice‑site mutations, account for up to 80% of reported cases. The proteins EXT1 and EXT2 form a hetero‑oligomeric complex that functions in heparan sulfate...

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Biopsy
DNA Mutational Analysis
Exostoses, Multiple Hereditary
Exostosin 2
N-Acetylglucosaminyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splice Sites

Tomography, X-Ray Computed

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Open in PubMed Open full text

Identifiers

PMID: 27748933
DOI: 10.3892/mmr.2016.5814
PMCID: PMC5102042

Genes

EXT2
EXT1

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

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