Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/52758
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 Iriberri, Rafael
Martorell, L.
Armstrong i Morón, Judith
Antón López, Jordi
Torner Rubies, Ferran
Vilaseca, M. A.
Nevado, J.
Lapunzina, P.
Asteggiano, C. G.
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: http://dx.doi.org/10.1038/srep01346
It is part of: Scientific Reports, 2013, vol. 3, num. 1346, p. 1-7
Related resource: http://dx.doi.org/10.1038/srep01346
URI: http://hdl.handle.net/2445/52758
ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Articles publicats en revistes (Fonaments Clínics)

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