Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.

Abstract excerpt

BACKGROUND: Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis. METHODS: In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families...

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• Asian People
• Child, Preschool
• Exostoses, Multiple Hereditary
• Exostosin 1
• Exostosin 2