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

ABSTRACT:

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 were screened by direct sequencing. The consequence of a detected mutant was predicted by in silico analysis and confirmed by mRNA analysis. The EXT1 and EXT2 mRNA and protein levels and the HS patterns in the HME patients were compared with those in healthy controls.

Results

A heterozygous transition (c.743+1G>A) in the EXT2 gene, which co-segregated with the HME

SUBMITTER: Tian C 

PROVIDER: S-EPMC3984245 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature