Sarrión Pérez-Caballero, PatriciaSangorrin, A.Urreizti, RoserDelgado, A.Artuch Iriberri, RafaelMartorell, L.Armstrong i Morón, JudithAntón López, JordiTorner Rubies, FerranVilaseca, M. A.Nevado, J.Lapunzina, PabloAsteggiano, CarlaBalcells Comas, SusanaGrinberg Vaisman, Daniel Raúl2018-11-082018-11-082013-02-262045-2322https://hdl.handle.net/2445/125924Multiple 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.7 p.application/pdfengcc-by (c) Sarrión Pérez-Caballero, Patricia et al., 2013http://creativecommons.org/licenses/by/3.0/esGenèticaTeixit ossiOssosMalalties de l'aparell locomotorGeneticsBoneBonesEnfermedades del aparato locomotorinfo:eu-repo/semantics/article6216372018-11-08info:eu-repo/semantics/openAccess23439489