Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.

ABSTRACT:

Background

Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped bone tumors at children's metaphyses. MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases.

Methods

Here we report on the first molecular characterization of ten large EXT1- and EXT2-deletions in MO-patients. Deletions were initially identified using MLPA or FISH analysis and were subsequently characterized using an MO-specific tiling pa

SUBMITTER: Jennes I 

PROVIDER: S-EPMC3152881 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature