Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme.
|
29672931 |
2019 |
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
As the STS gene escapes X-inactivation, female carriers of XLI-associated genetic mutations have reduced STS expression/activity relative to non-carrier females, and could manifest similar behavioural phenotypes to males with XLI.
|
30768640 |
2019 |
Ichthyosis, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Enhancement of polaron-hopping-based a.c. conduction in semiconducting STS (Se-Te-Sn) glass by silver incorporation.
|
30014053 |
2018 |
Ichthyosis, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
X-linked ichthyosis (XLI) is a recessive keratinization condition caused by deficient activity of steroid-sulfatase due to mutations in steroid sulfatase (STS) gene located on the X chromosome.
|
30021537 |
2018 |
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 |
Submicroscopic deletions at Xp22.31 involving STS and ANOS1 (alias KAL1) underlie X-linked ichthyosis and Kallmann syndrome, respectively.
|
28253503 |
2017 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, his mother's brothers suffered from mild XLI and only had a deletion encompassing the STS.
|
28710038 |
2017 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The clinical diagnosis of XLI was confirmed molecularly by laboratory evidence of a maternal 1.61 M deletion (including the STS gene) on ChrXp22.31.
|
26676689 |
2016 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CNV-Seq analysis of the maternal white blood cell DNA archived from the original two NIPT blood samples identified small CNVs spanning the STS gene, which is associated with X-linked ichthyosis.
|
25689220 |
2015 |
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 |
STS deletions may cause a milder skin phenotype than the typical presentation of XLI.
|
25659225 |
2015 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Further studies are required to determine whether the STS gene or the co-deleted flanking sequences are the cause of renal disease associated with XLI.
|
23939749 |
2013 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.
|
23807007 |
2013 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Additional samples were collected from the forearms of subjects with ichthyosis vulgaris (filaggrin (FLG) deficiency), recessive X-linked ichthyosis (steroid sulfatase (STS) deficiency) and autosomal recessive congenital ichthyosis type lamellar ichthyosis (transglutaminase 1 (TGM1) deficiency).
|
24130705 |
2013 |
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 |
X-linked recessive ichthyosis (XLRI) is due to deletions or inactivating mutations in the steroid sulfatase (STS) gene.
|
22486194 |
2012 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
In addition to FLG genotyping, the STS gene was analyzed to exclude X-linked recessive ichthyosis (XLI).
|
22164253 |
2011 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated.
|
20523032 |
2010 |
Ichthyosis, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.
|
20236202 |
2010 |
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 |
AlteredExpression
|
disease |
BEFREE |
The patient had undetectable levels of STS activity when compared with normal control (0.00 pmol mg(-1) protein h(-1)) which confirmed the diagnosis of X-linked ichthyosis (XLI) .
|
19200188 |
2009 |
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 |
BEFREE |
Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders.
|
18413370 |
2008 |