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Title: Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
Author: Sarrión Pérez-Caballero, Patricia
Sangorrin, A.
Urreizti Frexedas, Roser
Delgado, A.
Artuch, R.
Martorell, L.
Armstrong, J.
Antón López, Jordi
Torner Rubies, Ferran
Vilaseca, M.A.
Nevado, J.
Lapunzina, P.
Asteggiano, Carla
Balcells Comas, Susana
Grinberg Vaisman, Daniel Raúl
Keywords: Genètica
Teixit ossi
Malalties de l'aparell locomotor
Enfermedades del aparato locomotor
Issue Date: 26-Feb-2013
Publisher: Nature Publishing Group
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Scientific Reports, 2013, vol. 3, num. 1346, p. 1-7
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

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