×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas .
29989442
2019
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
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
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
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
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
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
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
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
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas .
26961984
2016
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
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
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
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
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
The coding exons of EXT1 and EXT2 were screened in 10 probands affected with MO .
22820392
2012
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas .
23341036
2013
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas .
28849184
2017
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
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
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
0.100
GeneticVariation
disease
BEFREE
Multiple osteochondromas (MO) is an autosomal dominant disorder caused by germline mutations in EXT1 and/or EXT2 .
20813973
2010
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
The coding exons of EXT1 and EXT2 were screened in 72 unrelated probands affected with MO .
17041877
2006
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
0.100
GeneticVariation
disease
BEFREE
Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases.
21280143
2011
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
0.100
GeneticVariation
disease
BEFREE
Novel mutation of EXT2 identified in a large family with multiple osteochondromas .
27748933
2016
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases.
21280143
2011
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
0.100
GeneticVariation
disease
BEFREE
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas .
23629877
2013
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
The novel c.1457insG deleterious mutation of EXT1 gene reported in this study expands the causal mutation spectrum of MO , and may be helpful for prenatal genetic screening and early diagnosis of MO .
24009674
2013
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
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
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
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
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
The genetics of these tumors is intriguing ranging from single gene event (ie, EXT mutation in multiple osteochondromas ) to heterogeneous rearrangements with no recurrent involved chromosomal regions such as in chondroblastoma.
19700940
2009
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
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
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
0.100
GeneticVariation
disease
BEFREE
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas .
26961984
2016
×
Entrez Id:
2131
Gene Symbol:
EXT1
EXT1
0.100
GeneticVariation
disease
BEFREE
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas .
23629877
2013