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Mutations of the EXT1 and EXT2 genes probably underlie the hereditary multiple exostosis in both pedigrees
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
A novel EXT2 mutation was identified in a family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia.
The present study identified pathogenic mutations in 93% (68/73) of unrelated hereditary multiple osteochondromasprobands from 73 pedigrees. Mutations in EXT1 and EXT2 were identified in 53% (39/73) and 40% (29/73) of families.
Exons and flanking regions of the EXT1 and EXT2 genes were analyzed from the genomic DNA of 153 patients in 114 families with multiple osteochondromas. We identified 33 variants in EXT1 (13 frameshift, 11 nonsense, 5 missense, 2 splice site mutation, and 2 large deletions) in and 17 (6 frameshift, 6 splice site mutation, 3 nonsense, 1 missense, and 1 large deletion) in EXT2 gene. Of all 50 variants, 31 (62%) were novel.
RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma.
The nine mutations identified by targeted next-generation sequencing include two missense mutations (EXT1: c.1088G>A and c.2120C>T), one splicing mutation (EXT2: c.744-1G>T)
Let-7b-mediated suppression of initiation codon depends on the length of 5'-UTR of EXT2 mRNA and its suppression is inhibited in the presence of polyamines.
the present study identified a novel missense mutation (c.1385G>A) in exon 8 and a splicing mutation (c.725+1G>C) in intron 3 of the EXT2 gene, which are responsible for MO in certain Chinese patients. The findings are useful for expanding the database of known EXT2 mutations and understanding the genetic basis of MO in Chinese patients, which may improve genetic counseling and the prenatal diagnosis of MO.
Germline EXT2 mutation is associated with chondrosarcoma.
The mutation results in deletion of exon 5 in the mRNA, producing a frameshift that leads to a premature termination codon. The present study extends the mutational spectrum of EXT2.
Authors identified two homozygous mutations p.Met87Arg and p.Arg95 Cys in exostosin 2, EXT2, a ubiquitously expressed gene that encodes a glycosyltransferase. In patient cells, diminished expression and function was observed.
We report the discovery of a non-sense mutation in EXT2 in an 11-y-old boy diagnosed with multiple osteochondroma.
We found that the prevalence of EXT1 mutations was greater than that of EXT2 mutations in Japanese multiple osteochondromas families.
EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population.
EXT2 mutation is associated with multiple osteochondromatosis.
Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
loss of function of EXT2 subjects with hereditary multiple exostoses affects pancreatic insulin secretion capacity and development.
Analysis of microsatellite polymorphic markers in the 11p region harboring the EXT2 gene did not reveal any loss of heterozygosity
The heterozygous mutation c.743+1G>A in the EXT2 gene causes HME as a result of abnormal splicing, mRNA decay, and the resulting haploinsufficiency of EXT2.
The study indicates that formation of stereotypic exostoses requires a significant, but not complete, loss of Ext expression.
The EXT2 gene encodes an essential component of the glycosyltransferase complex required for biosynthesis of heparan sulfate, which may eventually modulate the signaling involved in bone formation
EXT2 peaks during early postnatal period in the cerebrum and around birth in the cerebellum. EXT2 was localized primarily in the neuroepithelial cells surrounding the lateral ventricles, the mesencephalic vesicle, and the fourth ventricle.
Mutant embryos developed normally until embryonic day 6.0, when they became growth arrested and failed to gastrulate, pointing to the early essential role for heparan sulfate in developing embryos.
NDST1 competes with EXT1 for binding to EXT2.
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
, glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
, multiple exostoses protein 2
, putative tumor suppressor protein EXT2
, multiple exostoses protein 2 homolog
, exostoses (multiple) 2
, exostosin 2
, glucuronyl/N-acetylglucosaminyl transferase
, exostosin glycosyltransferase 2 L homeolog