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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, SANGORRIN, A., URREIZTI, Roser, DELGADO, A., ARTUCH IRIBERRI, Rafael, MARTORELL, L., ARMSTRONG I MORÓN, Judith, ANTÓN LÓPEZ, Jordi, TORNER RUBIES, Ferran, VILASECA, M. a., NEVADO, J., LAPUNZINA, Pablo, ASTEGGIANO, Carla, BALCELLS COMAS, Susana, GRINBERG VAISMAN, Daniel raúl. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. _Scientific Reports_. 2013. Vol. 3, núm. 1346, pàgs. 1-7. [consulta: 25 de febrer de 2026]. ISSN: 2045-2322. [Disponible a: https://hdl.handle.net/2445/125924]