|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.
|
21912078 |
2011 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Twelve patients (8 LWD and 4 DSS) had deletions in SHOX area detected by MLPA and 2 patients generated discordant results with the other methodologies.
|
20538086 |
2011 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
|
21712857 |
2011 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%.
|
21057178 |
2010 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis.
|
20375215 |
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 |
The authors conclude that enhancer deletions in the SHOX gene region are a relatively frequent cause of growth failure in patients with idiopathic short stature and Leri-Weill syndrome.
|
19578035 |
2009 |
|
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 short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri-Weill dyschondrosteosis (LWD), the molecular defect has not been identified in approximately 20% of Japanese LWD patients.
|
18322641 |
2008 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The LMD proband described here represents the first LMD case due to compound heterozygosity for deletions of the two different PAR1 regions, SHOX-encompassing and downstream from SHOX, that have been shown to be implicated in the pathogenesis of LWD and LMD.
|
17394206 |
2007 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
This finding suggests that the skeletal dysplasia in both mother and son is allelic with LWD and LMD and results from a novel misexpression of SHOX.
|
17994562 |
2007 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill syndrome, and with no functional copy of the SHOX gene, Langer syndrome.
|
17182655 |
2007 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also demonstrate the lack of promoter activation in two SHOX mutants from patients with Leri-Weill syndrome.
|
17881654 |
2007 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, the use of the multiple ligation probe amplification (MLPA) assay for the identification and characterization of SHOX deletions in 15 LWD patients, 3 of which carriers of chromosome abnormalities involving the SHOX gene, is reported.
|
17091221 |
2007 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analysed the SHOX gene in children with ISS and Leri-Weill dyschondrosteosis (LWD) and evaluated the phenotypic variability in patients harbouring SHOX mutations.
|
17201812 |
2007 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have analysed four families with Léri-Weill dyschondrosteosis with deletions in the pseudoautosomal region but still with an intact SHOX coding region.
|
17200153 |
2007 |
|
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 |
Biomarker
|
disease |
BEFREE |
The deletions map at least 30-250 kb downstream of SHOX, are variable in size and clearly cosegregate with the LWD phenotype.
|
16941489 |
2006 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The high frequency of SHOX anomalies in the ISS group can be explained by the large proportion of boys in this group, reflecting the difficulty in diagnosing dyschondrosteosis in young boys.
|
16597678 |
2006 |
|
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 |
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 |