Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Winge, M; Hoppe, Torborg; Liedén, Agne; Nordenskjöld, Magnus; Vahlquist, Anders; Wahlgren, Carl-Fredrik; Törmä, Hans; Bradley, J. F. N.; Berne, Berit

doi:10.1016/j.jdermsci.2011.03.011

Cited by 12 publications

(9 citation statements)

References 9 publications

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“…Although several other STS point mutations have been identified in individuals with XLI, these individuals either did not have ocular findings or the reports do not describe an ocular examination. 23, 24 In the case that we report, the initial diagnosis of XLI and associated pre-Descemet corneal dystrophy was confirmed using CNV analysis after a screening for point mutations in STS indicated that the gene was deleted. Thus, aCGH offers ophthalmologists and other clinicians a rapid and relatively inexpensive means to confirm or refute a presumptive clinical diagnosis.…”

Section: Discussionmentioning

confidence: 60%

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Hung

Ayabe

Wang

et al. 2013

Cornea

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Purpose To report the association of X-inked ichthyosis and pre-Descemet corneal dystrophy with a deletion of the steroid sulfatase gene (STS) detected with microarray-based comparative genomic hybridization (aCGH). Methods A slit lamp biomicroscopic and cutaneous examination were performed, after which a saliva sample was collected as a source of genomic DNA. PCR amplification of each of the 10 exons of STS was performed, as was aCGH on genomic DNA to detect copy number variation (CNV). Results Slit lamp examination revealed punctate opacities in the posterior corneal stroma of each eye. Cutaneous examination demonstrated scaling and flaking skin of the arms and legs. PCR amplification using primers designed to amplify each of the 10 exons of STS failed to produce any amplicons. Subsequently, aCGH performed on genomic DNA revealed a microdeletion in the Xp22.31 cytoband of approximately 1.7 megabases, containing STS. Conclusions The identification of a microdeletion within Xp22.3 containing STS with aCGH in an individual with suspected pre-Descemet corneal dystrophy and X-inked ichthyosis demonstrates the clinical utility of CNV analysis in confirming a presumptive clinical diagnosis.

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Section: Discussionmentioning

confidence: 60%

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Hung

Ayabe

Wang

et al. 2013

Cornea

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“…Fifteen AD/IV patients carried either a homozygous or a compound heterozygous FLG mutation (two R501X; nine 2282del4; one S3247X; two 2282del4/S3247X and one 2282del4/R501X) and were included in the AD/IV FLG −/− group (of these fifteen patients, three had IV phenotype without AD at the time of examination). One patient was excluded from the AD/IV FLG−/−group after no FLG mutations were detected, and subsequent STS genotyping revealed a point mutation, recently published elsewhere [16]. In the AD FLG +/+ group 78.6% were females, the average age was 56 (range 28–78) and the mean SCORAD was 7.6 (range 0–14.7).…”

Section: Resultsmentioning

confidence: 99%

“…The sample was analyzed on the ABI 3130xl Genetic Analyzer. In addition, exon 1–10 of the STS gene was sequenced using primers and PCR conditions previously described in male patients where no deletion was detected [16].…”

Section: Methodsmentioning

confidence: 99%

Filaggrin Genotype Determines Functional and Molecular Alterations in Skin of Patients with Atopic Dermatitis and Ichthyosis Vulgaris

et al. 2011

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BackgroundSeveral common genetic and environmental disease mechanisms are important for the pathophysiology behind atopic dermatitis (AD). Filaggrin (FLG) loss-of-function is of great significance for barrier impairment in AD and ichthyosis vulgaris (IV), which is commonly associated with AD. The molecular background is, however, complex and various clusters of genes are altered, including inflammatory and epidermal-differentiation genes.ObjectiveThe objective was to study whether the functional and molecular alterations in AD and IV skin depend directly on FLG loss-of-function, and whether FLG genotype determines the type of downstream molecular pathway affected.Methods and FindingsPatients with AD/IV (n = 43) and controls (n = 15) were recruited from two Swedish outpatient clinics and a Swedish AD family material with known FLG genotype. They were clinically examined and their medical history recorded using a standardized questionnaire. Blood samples and punch biopsies were taken and trans-epidermal water loss (TEWL) and skin pH was assessed with standard techniques. In addition to FLG genotyping, the STS gene was analyzed to exclude X-linked recessive ichthyosis (XLI). Microarrays and quantitative real-time PCR were used to compare differences in gene expression depending on FLG genotype. Several different signalling pathways were altered depending on FLG genotype in patients suffering from AD or AD/IV. Disease severity, TEWL and pH follow FLG deficiency in the skin; and the number of altered genes and pathways are correlated to FLG mRNA expression.ConclusionsWe emphasize further the role of FLG in skin-barrier integrity and the complex compensatory activation of signalling pathways. This involves inflammation, epidermal differentiation, lipid metabolism, cell signalling and adhesion in response to FLG-dependent skin-barrier dysfunction.

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“… Transepidermal water loss (TEWL) (a) and surface pH (b) in skin of healthy controls and patients with X‐linked recessive ichthyosis (XLRI) at baseline. The values marked in red are from a patient with a novel mutation resulting in a premature stop codon in exon 3 of the STS gene 5 . Controls: n = 14 and patients with XLRI: n = 14.…”

Section: Resultsmentioning

confidence: 99%

“…XLRI, affecting 1 : 2000–1 : 6000 males, is caused by a hereditary deficiency of the steroid sulfatase (STS) enzyme 4,5 . Deletions or mutations in the STS gene result in accumulation of cholesterol sulphate in skin, plasma and red blood cells.…”

mentioning

confidence: 99%

X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments

Hoppe

Winge

Bradley

et al. 2012

British Journal of Dermatology

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Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

Cited by 12 publications

References 9 publications

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Filaggrin Genotype Determines Functional and Molecular Alterations in Skin of Patients with Atopic Dermatitis and Ichthyosis Vulgaris

X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments

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