title: Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.
abstract: Exostosin glycosyltransferase (EXT) 1 and EXT2 have been identified as causative genes in osteochondroma; however, it is not known whether these genes are also involved in condylar osteochondromas. The aim of this study was to identify EXT1 and EXT2 mutations in patients with non-hereditary osteochondromas of the mandibular condyle. DNA was obtained from resected tissues (cartilage cap) of 12 patients with solitary condylar osteochondromas. The exons, 3',5'-untranslated regions and intron-exon boundaries of EXT1 and EXT2 were amplified by polymerase chain reaction and the products were sequenced directly. Through direct sequencing, four genetic variations of EXT1 in 4 cases and three variations of EXT2 in 5 cases were identified. The intronic alteration of the EXT2 gene, occurring in 2 cases, was novel, whereas the other alterations had been previously reported. Nonsense somatic mutations were detected in tumor DNA. Our study extended the mutational spectrum in EXT1 and EXT2 and may facilitate a better understanding of the pathophysiology of condylar osteochondromas.
authors: Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, Shanghai Key Laboratory of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, P.R. China.
authors: Qin
authors: Q
authors: Zhou
authors: Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, Shanghai Key Laboratory of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, P.R. China.
authors: Chi
authors: C
authors: Yang
authors: Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, Shanghai Key Laboratory of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, P.R. China.
authors: Min-Jie
authors: MJ
authors: Chen
authors: Department of Stomatology, Huashan Hospital, Fudan University, Shanghai 200438, P.R. China.
authors: Ling-Zhi
authors: LZ
authors: Li
keywords: condylar osteochondroma; exostosin glycosyltransferases 1 and 2; mutation