Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA).
|
19169498 |
2008 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
|
10878753 |
2000 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome.
|
16807223 |
2006 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Defects of the pseudoautosomal homeobox gene SHOX were previously shown to lead to short stature and Leri-Weill syndrome, and haploinsufficiency of SHOX was implicated to cause the short stature phenotype in Turner syndrome.
|
10749976 |
2000 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
SHOX haplo-insufficiency is considered the molecular basis of short stature in patients with Turner's syndrome, and gives rise to the short stature with mesomelic dysplasia and Madelung deformity of patients with Leri-Weill syndrome.
|
11874178 |
2002 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of the SHOX gene is believed to be responsible for poor growth such as that observed in ther Leri-Weill syndrome (LWS).
|
16319696 |
2005 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic alterations in SHOX result in two skeletal dysplasias; Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), while no human genetic disease has been linked to date with SHOX2.
|
24421874 |
2014 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%).
|
22020182 |
2012 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LWD in the proband and his mother was explained by SHOX haploinsufficiency.
|
11503163 |
2001 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We undertook NPR2 mutation screening in 173 individuals referred for suspected LWD and 95 for ISS, with no known defect in SHOX or its enhancers.
|
26075495 |
2015 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two regions of the pseudoautosomal region 1 (PAR1) have been shown to be involved in LWD, SHOX (short-stature homeobox-containing gene) and the downstream enhancer region.
|
20412871 |
2010 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, the proband with LWD had inherited both a SHOX deletion and a duplication.
|
19533800 |
2009 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature.
|
15931595 |
2005 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The aim of our study was to compare frequency and distribution of duplications within SHOX and associated elements between population sample and LWD (ISS) patients.
|
28629824 |
2017 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia that has been recently ascribed to large-scale deletions and nonsense mutations of the SHOX gene on the pseudoautosomal region of chromosome X and Y [Belin et al., 1998: Nat Genet 19:67-69; Shears et al., 1998: Nat Genet 19:70-73].
|
11891678 |
2001 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although haploinsufficiency of SHOX may result in Léri-Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient.
|
14981722 |
2004 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, different SHOX missense mutations, identified in LWD and ISS patients, disrupted this interaction.
|
21262861 |
2011 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
|
10626546 |
1999 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Short stature homeobox-containing (SHOX) gene deficiency is acknowledged under the term "dyschondrosteosis", which is included in the family of congenital osteodystrophies.
|
21057185 |
2010 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the SHOX gene cause Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LD) as well as idiopathic short stature (ISS).
|
15173321 |
2004 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Similarly, when LWD and marked short stature occur in a patient with mosaic Turner syndrome, the possibility of mutations in SHOX and the downstream of SHOX gene should be considered.
|
20683993 |
2010 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX-molecular analysis is indicated in families with LWD and ISS children with disproportionate short stature.
|
21150837 |
2010 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome.
|
11408757 |
2001 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, SHOX defects were the main cause of LWD.
|
15356038 |
2004 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia.
|
21068148 |
2011 |