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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, 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 |
Keywords: | Genètica Teixit ossi Ossos Malalties de l'aparell locomotor Genetics Bone Bones 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: https://doi.org/10.1038/srep01346 |
It is part of: | Scientific Reports, 2013, vol. 3, num. 1346, p. 1-7 |
URI: | http://hdl.handle.net/2445/125924 |
Related resource: | https://doi.org/10.1038/srep01346 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (Fonaments Clínics) Articles publicats en revistes (Genètica, Microbiologia i Estadística) Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques) |
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