Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses
نویسندگان
چکیده
منابع مشابه
Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses
BACKGROUND Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genes EXT1 and EXT2. METHODS Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2, including intron/exon...
متن کاملNovel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.
Hereditary multiple exostoses (HME) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors. EXT1 located on chromosome 8q23-q24 and EXT2 located on 11p11-p12 are the main disease-causing genes which are responsible for ~90% of HME cases. Mutations of EXT1 or EXT2 result in insufficient heparan sulfate biosynthesis, which facilitates chond...
متن کاملLengthening the ulna in patients with hereditary multiple exostoses.
Deformity of the forearm is common in patients with hereditary multiple exostoses, producing cosmetic and functional impairment in which shortening of the ulna is a significant factor. The results of ulnar lengthening in 10 forearms of eight patients are reported. Lengthening was performed by osteotomy of the shaft followed immediately by a bone graft and internal fixation, or by gradual distra...
متن کاملHereditary multiple exostoses.
Hereditary multiple exostoses (HME) is a skeletal disorder which primarily affects enchondral bone during growth. It is characterised by multiple exostoses, usually arising in the juxtaepiphyseal region of the long bones. Exostoses that affect "almost every bone in the body" were first mentioned by John Hunter in his Lectures on the principles of surgery in 1786.1 The first family affected by H...
متن کاملManifestations of hereditary multiple exostoses.
The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone...
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ژورنال
عنوان ژورنال: BioMedicine
سال: 2014
ISSN: 2211-8039
DOI: 10.7603/s40681-014-0011-4