MUTATIONS IN THE EXT1 AND EXT2 GENES IN SPANISH PATIENTS WITH MULTIPLE OSTEOCHONDROMAS
| Autor: | P. Sarrión, A.Sangorrin, R. Urreizti, A. Delgado, R. Artuch, L. Martorell, J. Armstrong, J, Anton, F.Torner, M.A. Villaseca, J.Nevado, P.Lapunzina, C.G. Asteggiano, S. Balcells, D. Grinberg |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Repositorio Digital Universitario (UNC) Universidad Nacional de Córdoba instacron:UNC |
| Popis: | 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.Wefound the mutant allele in 37 patients, 29 inEXT1 and 8 inEXT2. 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. publishedVersion Otras Ciencias de la Salud |
| Databáze: | OpenAIRE |
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