Artículos de revistas
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
Fecha
2013-02Registro en:
Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, María Andrea; Artuch, R. ; et al.; Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas; Nature Publishing Group; Scientific Reports; 3; 2-2013; 1-7; 1346
2045-2322
CONICET Digital
CONICET
Autor
Sarrión, P.
Sangorrin, A.
Urreizti, R.
Delgado, María Andrea
Artuch, R.
Martorell, L.
Armstrong, J.
Anton, J.
Torner, F.
Vilaseca, M. A.
Nevado, J.
Lapunzina, P.
Asteggiano, Carla Gabriela
Balcells, S.
Grinberg, D.
Resumen
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.