A Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses

A Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses

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, EXT...

Hereditary multiple exostoses.

Hereditary multiple exostoses (HME) is a skeletal disorder which primarily affects enchondral bone during growth. It is characterised by multiple exostoses, usually arising in the juxtaepiphyseal region of the long bones. Exostoses that affect "almost every bone in the body" were first mentioned by John Hunter in his Lectures on the principles of surgery in 1786.1 The first family affected by H...

Manifestations of hereditary multiple exostoses.

The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone...

Hereditary multiple exostoses: report of a kindred.

In a large family with 37 members with multiple exostoses, only one person has developed sarcomatous degeneration of a lesion. Our review of published reports revealed great variation in the incidence of malignancy in multiple exostoses (10 to 25%). Most studies had sampling errors leading to the apparent overstatement of risk. In large pedigrees with essentially complete ascertainment of affec...

Hereditary multiple exostoses: A case-report.