|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MO is a very rare genetic disorder, and the genotype-phenotype of MO with EXT2 mutation has not been well investigated in Korea.
|
30730578 |
2019 |
|
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The existence of the mosaic deletion was subsequently confirmed clinically by an increased density copy number array and orthogonal methodologies CONCLUSIONS: While mosaic mutations and deletions of EXT1 and EXT2 have been reported in the context of multiple osteochondromas, to our knowledge, this is the first time that transcriptomics technologies have been used to diagnose a patient via fusion transcript analysis in the congenital disease setting.
|
30632316 |
2019 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in Brazilian population.
|
29529714 |
2018 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, our paper provides the primary data of the application of t-NGS in MO molecular diagnosis, including six newly identified mutations (EXT1: c.1843_1846dup, c.1088G>A, c.351C>G, and c.2120C>T and EXT2: c.744-1G>T and c.575T>A), which further enrich the mutation database of MO from the Chinese population.
|
28690282 |
2017 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
28849184 |
2017 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation of EXT2 identified in a large family with multiple osteochondromas.
|
27748933 |
2016 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes.
|
25744876 |
2015 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of MO in Chinese patients.
|
24120389 |
2013 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
|
23629877 |
2013 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
|
23439489 |
2013 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coding exons of EXT1 and EXT2 were screened in 10 probands affected with MO.
|
22820392 |
2012 |
|
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO).
|
22037484 |
2012 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases.
|
21703028 |
2011 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases.
|
21280143 |
2011 |
|
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
PEI staining was studied by electron and reflection contrast microscopy in human growth plates, osteochondromas and five different proteoglycan-deficient zebrafish mutants displaying one of the following skeletal phenotypes: dackel (dak/ext2), lacking heparan sulphate and identified as a model for human multiple osteochondromas; hi307 (β3gat3), deficient for most glycosaminoglycans; pinscher (pic/slc35b2), presenting with defective sulphation of glycosaminoglycans; hi954 (uxs1), lacking most glycosaminoglycans; and knypek (kny/gpc4), missing the protein core of the glypican-4 proteoglycan.
|
21506131 |
2011 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO).
|
21533187 |
2011 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous c.1173 + 1G > T (EXT2) mutation was identified in a three-generation 34-member MO family and is present in all 19 affected members.
|
20872591 |
2010 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiple osteochondromas (MO) is an autosomal dominant disorder caused by germline mutations in EXT1 and/or EXT2.
|
20813973 |
2010 |
|
Osteochondromatosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The tumor suppressor genes EXT1 and EXT2 are involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas.
|
19179614 |
2009 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this article, the clinical aspects and molecular genetics of EXT1 and EXT2 are reviewed together with 895 variants in MO patients.
|
19810120 |
2009 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.
|
19344451 |
2009 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The coding exons of EXT1 and EXT2 were screened in 72 unrelated probands affected with MO.
|
17041877 |
2006 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
|
16088908 |
2005 |
|
Osteochondromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
|
15586175 |
2005 |