Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses.

ABSTRACT:

Background

Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genes EXT1 and EXT2.

Methods

Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2, including intron/exon boundaries, sequenced via DNA samples drawn from participants.

Results

DNA sequencing revealed mutant EXT1 gene in both cases, within which frame-shift mutation c.447delC (p.Ser149fsX156) in exon1 and nonsense mutation c.2034T>G (p.Tyr678X) in exon10, emerged. Neither mutation was detected in control group.

Conclusions

Our results extende

SUBMITTER: Lin WD 

PROVIDER: S-EPMC4265008 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature