|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences.
|
1539590 |
1992 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients.
|
10844566 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report shows a very high frequency of deletions in the human STS encoding gene in a representative sample of the Mexican population, and it defines the characteristics of XLI in patients whose STS gene has a complete deletion as a major molecular defect.
|
9375723 |
1997 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the first partial deletion of the STS gene spanning exons 1-5 in X-linked ichthyosis patients.
|
11231321 |
2001 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Amino acid substitutions due to point mutations in X-linked ichthyosis are mapped onto the three-dimensional structure of human STS.
|
15607112 |
2004 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
XLI has been diagnosed by assaying STS activity in placenta or lymphocytes of patients after birth.
|
10679952 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An unusually severe XLI phenotype in addition to eczema and mild childhood asthma was investigated in a female Indian patient by fluorescent in situ hybridization (FISH) for the common STS gene deletion.
|
21945601 |
2011 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
|
23791652 |
2013 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Egyptian males complaining of X-linked ichthyosis were clinically examined, evaluating pedigree analysis of the family, cytogenetic studies using G-banding technique and FISH using locus specific probe for steroid sulfatase (STS) gene which is located at chromosome Xp22.3.
|
20941942 |
2010 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
STS gene deletion in patients with XLI involved the sequences DXS1139 and DXF22S1.
|
18205863 |
2008 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
However, some patients with the classical XLI phenotype and complete STS deficiency do not show any detectable deletions by Southern blot analysis using full-length STS cDNA as a probe.
|
1539590 |
1992 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus.
|
29901853 |
2018 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris.Two brothers presented with XLI.
|
17657246 |
2007 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient.
|
10692123 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.
|
25597551 |
2015 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the entire steroid sulfatase (STS) gene is the most common molecular defect in X-linked ichthyosis (XLI) patients.
|
10759956 |
2000 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders.
|
18413370 |
2008 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene.
|
2493225 |
1989 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The gene responsible for the X-linked KS has been localized to the terminal part of the X-chromosome short arm (Xp22.3 region), immediately proximal to the steroid sulfatase gene responsible for X-linked ichthyosis.
|
8473391 |
1993 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some patients with XLI with terminal deletions of Xp22.3 involving marker DXS1139 and the STS gene show mental retardation (MR); VCX3A is the only gene located on this critical region.
|
18076704 |
2008 |
|
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
STS deletions may cause a milder skin phenotype than the typical presentation of XLI.
|
25659225 |
2015 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
We developed an STS (D4F106S1) which maps 2kb proximal to D4F104S1, and used this to isolate a 470kb YAC (y25C2E) from the ICI YAC library and a 930kb YAC (y956A11) from the CEPH megabase library.
|
7903581 |
1993 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
The blood STS (VDRL) was reactive at 1:64.
|
76401 |
1978 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although deletion of STS in males is known to cause X-linked ichthyosis, the clinical significance of STS copy gains is less clear, with the duplication reported in individuals with abnormal phenotypes and normal relatives.
|
21739574 |
2011 |
|
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Steroid sulfatase (STS) deficiency is the biochemical defect of X-linked ichthyosis (XLI), one of the most common X-linked disorders.
|
2644167 |
1989 |