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Sci Rep ; 3: 1346, 2013.
Article in English | MEDLINE | ID: mdl-23439489

ABSTRACT

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.


Subject(s)
Exostoses, Multiple Hereditary/genetics , Mutation , N-Acetylglucosaminyltransferases/genetics , White People/genetics , Adolescent , Adult , Child , Exons , Genetic Association Studies , Humans , Introns , Mutation Rate , Pedigree , Spain , Young Adult
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