Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

ABSTRACT:

Background

Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%-90% of patients. The EXT1 is more often mutated than EXT2 gene, with a variable prevalence between populations. There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in Brazilian population. The aim of this survey is to characterize these to determine the genotype profile of this population.

Methods

DNA sequencing (Sanger Method) and MLPA analysis were performed to identify point mutations and deletions/duplications in the sample of 153 patients in 114 families.

Results

Germline variants were identified in 83% of families in wh

SUBMITTER: Santos SCL 

PROVIDER: S-EPMC6014457 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature