Please use this identifier to cite or link to this item:
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, 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
Related resource:
ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)
Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)
Articles publicats en revistes (Fonaments Clínics)

Files in This Item:
File Description SizeFormat 
621637.pdf578.79 kBAdobe PDFView/Open

This item is licensed under a Creative Commons License Creative Commons