Leri-Weill dyschondrosteosis
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
In this study, we examined the DNA methylation status of SHOX-flanking CpG islands in 50 healthy individuals and 10 ISS/LWD patients with pseudoautosomal CNVs.
|
31158835 |
2019 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
|
31228230 |
2019 |
Langer Mesomelic Dysplasia Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations as well as biallelic deletions of SHOX and/or the enhancer regions result in a more severe phenotype, which is known as Langer Mesomelic Dysplasia (LMD; MIM #249700).
|
30626445 |
2019 |
Leri-Weill dyschondrosteosis
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
As many as 35% of LWD cases are caused by deletions of non-coding sequences downstream of SHOX that presumably remove an enhancer or enhancers necessary for SHOX expression in developing limbs.
|
30250174 |
2018 |
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 |
Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature.
|
27708272 |
2017 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Most SHOX-deficient patients in GeNeSIS had diagnoses of Leri-Weill syndrome (n = 292) or non-syndromic short stature (n = 228).
|
28002818 |
2017 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
SHOX abnormalities accounted for 3.8% of ISS and 50% of LWD cases.
|
26984564 |
2016 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To further evaluate the role of these duplications in SHOX-related disorders, we describe seven patients (five with Leri-Weill dyschondrosteosis and two with short stature) all of whom have duplications of part of the upstream or downstream conserved non-coding element regions, identified by multiplex ligation-dependent probe amplification.
|
26698168 |
2016 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The loss of SHOX gene functionality is assumed to be responsible for the Leri-Weill syndrome formation and the disproportionate short stature (DSS).
|
27387244 |
2016 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation.
|
27676402 |
2016 |
Langer Mesomelic Dysplasia Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
|
27355317 |
2016 |
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 |
Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature.
|
26337568 |
2015 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD).
|
26040210 |
2015 |
Langer Mesomelic Dysplasia Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature.
|
26337568 |
2015 |
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 |
Molecular defects of LWD/LMD include various microdeletions in PAR1 that involve exons and/or the putative upstream or downstream enhancer regions of SHOX, as well as several intragenic mutations.
|
24311385 |
2014 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations.
|
25056248 |
2014 |
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we report on a consanguineous family with a novel deletion downstream of SHOX in which homozygously deleted individuals have a phenotype intermediate between Léri-Weill dyschondrosteosis and Langer Mesomelic dysplasia while heterozygously deleted individuals are mostly asymptomatic.
|
25125269 |
2014 |
Langer Mesomelic Dysplasia Syndrome
|
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 |
Langer Mesomelic Dysplasia Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular defects of LWD/LMD include various microdeletions in PAR1 that involve exons and/or the putative upstream or downstream enhancer regions of SHOX, as well as several intragenic mutations.
|
24311385 |
2014 |
Langer Mesomelic Dysplasia Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we report on a consanguineous family with a novel deletion downstream of SHOX in which homozygously deleted individuals have a phenotype intermediate between Léri-Weill dyschondrosteosis and Langer Mesomelic dysplasia while heterozygously deleted individuals are mostly asymptomatic.
|
25125269 |
2014 |
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In 14 of these 17 patients, this was the only potentially causative abnormality detected (13 had symptoms consistent with LWD and one had short stature only), but the other three 47.5 kb deletions were found in patients with an additional causative SHOX mutation (with symptoms of LWD rather than LMD).
|
23636926 |
2013 |
Langer Mesomelic Dysplasia Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In 14 of these 17 patients, this was the only potentially causative abnormality detected (13 had symptoms consistent with LWD and one had short stature only), but the other three 47.5 kb deletions were found in patients with an additional causative SHOX mutation (with symptoms of LWD rather than LMD).
|
23636926 |
2013 |