title: Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
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.
authors: Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Spain.
authors: P
authors: P
authors: Sarrión
authors: A
authors: A
authors: Sangorrin
authors: R
authors: R
authors: Urreizti
authors: A
authors: A
authors: Delgado
authors: R
authors: R
authors: Artuch
authors: L
authors: L
authors: Martorell
authors: J
authors: J
authors: Armstrong
authors: J
authors: J
authors: Anton
authors: F
authors: F
authors: Torner
authors: M A
authors: MA
authors: Vilaseca
authors: J
authors: J
authors: Nevado
authors: P
authors: P
authors: Lapunzina
authors: C G
authors: CG
authors: Asteggiano
authors: S
authors: S
authors: Balcells
authors: D
authors: D
authors: Grinberg
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D007438:Introns; D009154:Mutation; D059645:Mutation Rate; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D013030:Spain; D044465:White People / Q000235:genetics*; D055815:Young Adult; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2