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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/125924
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
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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.
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SARRIÓN PÉREZ-CABALLERO, Patricia, et al. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Scientific Reports. 2013. Vol. 3, núm. 1346, pàgs. 1-7. ISSN 2045-2322. [consulta: 8 de maig de 2026]. Disponible a: https://hdl.handle.net/2445/125924