Prevalence of steroid sulfatase deficiency in California according to race and ethnicity

Craig, Wendy Y.; Roberson, Marie; Palomaki, Glenn E.; Shackleton, Cedric; Marcos, Josep; Haddow, James E.

doi:10.1002/pd.2588

Cited by 41 publications

(29 citation statements)

References 23 publications

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“…The scales vary in color, with 70% appearing dark brown and 30% showing light gray. This disorder predominantly occurs in the preauricular area, neck, axillae, anterior abdomen, and extension zone of the limbs . It is estimated that the incidence of this rare disease is 1/1500‐1/6000 .…”

Section: Introductionmentioning

confidence: 99%

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Zhang

Huang

Lin

et al. 2020

Clinical Laboratory Analysis

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Background X‐linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. Methods In this study, chromosome karyotype analysis, bacterial artificial chromosomes‐on‐Beads™ (BoBs) assay, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP‐array) were employed for the prenatal diagnoses in three pregnant women with high‐risk serological screening results and a pregnant woman with mental retardation. Results STS deletion was identified at chromosome Xp22.31 in all four fetuses. Postnatal follow‐up confirmed the diagnosis of ichthyosis in two male fetuses and revealed normal dermatological manifestations in other two female fetuses carrying ichthyosis. Conclusion The results of the present study demonstrate that a combination of karyotypying, prenatal BoBs, FISH, and SNP‐array may avoid the missed detection of common microdeletions and ensure the accuracy of the detection results, which provides a feasible tool for the reliable etiological diagnosis and better genetic counseling of XLI.

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Section: Introductionmentioning

confidence: 99%

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Zhang

Huang

Lin

et al. 2020

Clinical Laboratory Analysis

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“…However, the clinical and histological features of the disease were clearly recognized only in 1965 by Wells and Kerr, who also linked it to other markers on X chromosome. Recessive XLI (OMIM #308100) manifests almost exclusively in men and represents the second most common form of ichthyosis with an estimated prevalence ranging from 1:1500 to 1:6000 men worldwide …”

Section: Introductionmentioning

confidence: 99%

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Diociaiuti

Angioni

Pisaneschi

et al. 2018

Experimental Dermatology

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Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85%-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next-generation sequencing analysis. Neuropsychiatric, ophthalmological and paediatric evaluations were also performed. Our survey showed a frequent presence of disease manifestations at birth (42.8%). Fold and palmoplantar surfaces were involved in 18 (51%) and 7 (20%) patients, respectively. Fourteen patients (42%) presented neuropsychiatric symptoms, including attention-deficit hyperactivity disorder and motor disabilities. In addition, two patients with mental retardation were shown to be affected by a contiguous gene syndrome. Twenty-seven patients had a complete STS deletion, one a partial deletion and 7 carried missense mutations, two of which previously unreported. In addition, a de novo STS deletion was identified in a sporadic case. The frequent presence of palmoplantar and fold involvement in XLI should be taken into account when considering the differential diagnosis with ichthyosis vulgaris. Our findings also underline the relevance of involving the neuropsychiatrist in the multidisciplinary management of XLI. Finally, we report for the first time a de novo mutation which shows that STS deletion can also occur in oogenesis.

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“…1, 2 XLI, the second most common form of ichthyosis with a reported incidence of 1 in 1500 to 6000 males, usually presents within the first year of life with the appearance of large, hyperpigmented scales primarily on the extensor surfaces of the limbs and on the side of the torso. 3, 4 While other areas of the body may be affected, the lower extremities usually demonstrate the most significant cutaneous changes after early childhood. 5 …”

Section: Introductionmentioning

confidence: 99%

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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Prevalence of steroid sulfatase deficiency in California according to race and ethnicity

Abstract: The overall prevalence estimate of 1:1500 males is consistent with published estimates and is reasonable for counseling, except among Black pregnancies where no reliable estimate could be made.

Cited by 41 publications

References 23 publications

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

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

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