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A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

PloS one - 1 Jan 2014

Tian Chen, Yan Rengna, Wen Shuzhen, Li Xueling, Li Tianfeng, Cai Zhenming, Li Xinxiu, Du Hong, Chen Huimei

Abstract excerpt

BACKGROUND: Hereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME cases. However, the pathological significance of the majority of these mutations is often unclear. METHODS: In a Chinese family with HME, EXT1 and EXT2 genes...

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Alternative Splicing
Bone and Bones
Exostoses, Multiple Hereditary
Exostosin 2
N-Acetylglucosaminyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splice Sites

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Identifiers

PMID: 24728384
DOI: 10.1371/journal.pone.0094848
PMCID: PMC3984245

Genes

EXT2
EXT1

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

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