|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The short stature homeobox gene SHOX is associated with idiopathic short stature in humans, as seen in Turner syndrome and Leri-Weill dyschondrosteosis, while little is known about its close relative SHOX2.
|
16141225 |
2005 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Defects in SHOX have been identified in approximately 60% of LWD cases, whereas, in the remaining approximately 40%, the molecular basis is unknown.
|
16175500 |
2005 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a microdeletion in the SHOX 3' region identified in a Japanese infant with LMD-compatible skeletal features and a 45,X[191]/46,X,r(X)(p22.3q24)[9] karyotype and in her mother with LWDC-compatible skeletal features and a normal 46,XX karyotype.
|
16007631 |
2005 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, we demonstrate that single missense mutations in the homeodomain fundamentally impair SHOX key functions, thereby leading to the phenotype observed in patients with LWD and ISS.
|
15931687 |
2005 |
|
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 |
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 |
In conclusion, SHOX defects were the main cause of LWD.
|
15356038 |
2004 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) are caused by mutations in the SHOX gene.
|
15214013 |
2004 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius.
|
14557470 |
2003 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome.
|
12673642 |
2003 |
|
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 |
Mutations of a human homeobox gene, SHOX (short stature homeobox), have recently been shown to be associated with the short stature phenotype in patients with Turner syndrome and most patients with Léri-Weill dyschondrosteosis.
|
11889216 |
2002 |
|
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 |
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 |
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 |
Deletions of the terminal Xp regions, including the short-stature homeobox (SHOX) gene, were described in families with hereditary Turner syndrome and Léri-Weill syndrome.
|
11471178 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome.
|
11751690 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
|
11735031 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
SHOX point mutations in dyschondrosteosis.
|
11403039 |
2001 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We investigated the relationship between SHOX mutations, height deficit, and Madelung deformity to determine the contribution of SHOX haploinsufficiency to the LWD and Turner syndrome (TS) phenotypes.
|
11739418 |
2001 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.
|
10905666 |
2000 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In this study, we performed mutational analysis of the coding region of the SHOX gene in five DCO and 18 HCH patients, all of whom tested negative for the known HCH-associated FGFR3 mutations.
|
11030412 |
2000 |
|
Leri-Weill dyschondrosteosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations or complete deletions of SHOX, the short-stature homeobox-containing gene on the pseudoautosomal region of the sex chromosomes (Xp22 and Yp11.3), were recently reported in one family with idiopathic short stature and in several families with Leri-Weill syndrome (dyschondrosteosis).
|
10634394 |
2000 |