2026-04-13T01:04:15Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1258872025-12-04T22:43:15Zcom_2072_1057col_2072_478825col_2072_478917

00925njm 22002777a 4500 dc Delgado, M. A. author Martinez-Domenech, G. author Sarrión Pérez-Caballero, Patricia author Urreizti, Roser author Zecchini, L. author Robledo, H. H. author Segura, F. author Dodelson de Kremer, Raquel author Balcells Comas, Susana author Grinberg Vaisman, Daniel Raúl author Asteggiano, Carla author 2018-11-07T14:55:32Z 2018-11-07T14:55:32Z 2014-09-18 2018-11-07T14:55:32Z Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MO patients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG. Transformació genètica Amèrica Llatina Mutació (Biologia) Genetic transformation Latin America Mutation (Biology) A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDG