Fluorescence <i>in situ</i> hybridization analysis is useful for the diagnosis of the carrier state of X‐linked ichthyosis

Hosomi, Naoko; Fukai, Kazuyoshi; Tanaka, Akemi; Fujita, Hiroko; Ishii, Masamitsu

doi:10.1111/j.1365-4632.2008.03406.x

Cited by 6 publications

(3 citation statements)

References 4 publications

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“…a,c). Fluorescence in situ hybridization (FISH) analysis for the STS gene was performed, following a method described previously, using the LSI‐STS FISH probe, which is approximately 220 kb in size and includes the entire STS gene of approximately 145 kb. FISH disclosed that the patient had one copy of the STS gene in his X chromosome.…”

Section: Lumbar Spine and Total Hip Bone Density Of The Patient And Hmentioning

confidence: 99%

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism

et al. 2018

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Section: Lumbar Spine and Total Hip Bone Density Of The Patient And Hmentioning

confidence: 99%

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism

et al. 2018

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“…Serum lipoprotein electrophoresis is also diagnostic, demonstrating more rapid mobility of the LDL (beta) and pre-LDL (pre-beta) fractions due to an increase in sulfated sterol content [15,17]; however, this assay is no longer widely available. Because most XLI cases arise from deletion of the STS gene [18–26], fluorescence in situ hybridization (FISH) analysis is commonly employed for diagnosis of XLI and its carrier state [27], but FISH testing provides false negatives in XLI patients who have point mutations (≈10% of affected XLI subjects).…”

Section: Clinical Featuresmentioning

confidence: 99%

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Elias

Williams

Choi

et al. 2014

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biolog

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X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a ‘cholesterol sulfate cycle’ that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias.

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“…This approach is supported by a review of cases and series of XLI published in the literature to ascertain all sporadic cases where carrier testing was done in the mother of the affected boy. A total of 21 mothers of sporadic cases with proven STS deletion had been tested and in 19 cases the mother was found to be a carrier of the deletion (Ahmed et al,1998;Valdes-Flores et al, 2001;Toral-Lopez et al, 2008;Hosomi et al, 2008). Furthermore, Toral-Lopez et al reported on molecular analysis of families to identify the parental origin of the affected X-chromosome in seven unrelated sporadic cases of XLI (Toral-Lopez et al, 2008).…”

Section: Molecular Analysismentioning

confidence: 99%

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

et al. 2009

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ObjectiveTo ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome.MethodsWe reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy.ResultsThirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diagnosed prenatally, the frequency of contiguous gene deletion syndrome in this study was 1 out of 12 (8.3%).ConclusionThe clinical, cytogenetic and molecular data on this series of prenatally diagnosed cases of STS deficiency indicates that this is a common condition and in cases with no family history, the risk of contiguous gene deletion syndrome is significant, and warrants additional molecular genetic investigations of the mother and/or fetus. Copyright © 2009 John Wiley & Sons, Ltd.

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Fluorescence in situ hybridization analysis is useful for the diagnosis of the carrier state of X‐linked ichthyosis

Cited by 6 publications

References 4 publications

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

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