Analysis of the <i>STS</i> gene in 40 patients with recessive X‐linked ichthyosis: a high frequency of partial deletions in a Spanish population

Cañueto, Javier; Ciria, S.; Hernández‐Martín, Ángela; Unamuno, P.; González-Sarmiento, Rogelio

doi:10.1111/j.1468-3083.2010.03612.x

Cited by 26 publications

(12 citation statements)

References 23 publications

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“…One more case of partial deletion of STS spanning exons 7‐10 has been recently reported in a boy with primary microcephaly due to co‐occurrence of mutations in the ASPM gene . Different from these occasional observations, an exceptional rate of 25% has been reported in a series of Spanish patients . The authors suggested that this uncommon finding should be explained by the high incidence of consanguineous patients and by a founder effect …”

Section: Discussionmentioning

confidence: 59%

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

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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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Section: Discussionmentioning

confidence: 59%

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

Diociaiuti

Angioni

Pisaneschi

et al. 2018

Experimental Dermatology

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“…Globally about 90% of XLI patients have complete deletions of the STS gene and flanking sequences, one of the highest ratios of chromosomal deletions among all genetic disorders [16,21,22]. A small number of point mutations with functional implications and partial deletions have also been reported (Human Gene Mutation Database, HGMD; (http://www.hgmd.cf.ac.uk, July 2019) without any evidence of genotype/phenotype correlation [18,23].…”

Section: Discussionmentioning

confidence: 99%

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

et al. 2020

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Background: X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusively affects males and the estimated prevalence ranges from 1:2000-6000 in males worldwide. Extracutaneous manifestations are frequent including corneal opacities, cryptorchidism, neuropsychiatric symptoms or others. Up to 90% of XLI cases are caused by recurrent hemizygous microdeletion encompassing entire STS gene on chromosome Xp22.3, while only a minority of patients shows partial deletions or loss of function point mutations in STS. Larger deletions also involving contiguous genes are identified in syndromic patients. Methods: Here, we report clinical and genetic findings of a large Pakistani family having 16 affected individuals including 2 females with XLI. Molecular karyotyping and direct DNA sequencing of coding region of the STS gene was performed. Results: The clinical manifestations in affected individuals involved generalized dryness and scaling of the skin with polygonal, dark scales of the skin on scalp, trunk, limbs, and neck while sparing face, palms and soles. There were no associated extra-cutaneous features such as short stature, cryptorchidism, photophobia, corneal opacities, male baldness, and behavioral, cognitive, or neurological phenotypes including intellectual disability, autism or attention deficit hyperactivity disorder. Molecular karyotyping was normal and no copy number variation was found. Sanger sequencing identified a novel hemizygous nonsense mutation (c.287G > A; p.W96*), in exon 4 of STS gene in all affected male individuals. In addition, two XLI affected females in the family were found to be homozygous for the identified variant. Conclusions: This study is useful for understanding the genetic basis of XLI in the patients studied, for extending the known mutational spectrum of STS, diagnosis of female carriers and for further application of mutation screening in the genetic counseling of this family.

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“…X-linked ichthyosis (XLI, OMIM#308100) is a relatively rare hereditary keratinization disorder that affects between 1 in 2000 and 1 in 6000 males worldwide ( 1 ). Patients with XLI typically manifest generalized dryness and scaling of the skin with polygonal, thick dark scales that affect the flexures ( 2 ), whereas the palms and soles are usually spared. XLI is caused by a partial or complete deletion in the steroid sulfatase gene ( STS ), which leads to a deficiency of steroid sulfatase (SSase) activity ( 2 ).…”

Section: Introductionmentioning

confidence: 99%

“…Patients with XLI typically manifest generalized dryness and scaling of the skin with polygonal, thick dark scales that affect the flexures ( 2 ), whereas the palms and soles are usually spared. XLI is caused by a partial or complete deletion in the steroid sulfatase gene ( STS ), which leads to a deficiency of steroid sulfatase (SSase) activity ( 2 ). SSase is a 62 kDa microsomal enzyme that is essential for the hydrolysis of 3β-sulphate esters from cholesterol sulfate (CSO 4 ) ( 3 ) and a range of other sulfated steroid hormones.…”

Section: Introductionmentioning

confidence: 99%

Skin Barrier Function Is Not Impaired andKallikrein7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

et al. 2016

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X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.

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Analysis of the STS gene in 40 patients with recessive X‐linked ichthyosis: a high frequency of partial deletions in a Spanish population

Abstract: Amplification of exons 1, 5 and 10 is reliable in screening RXLI in the population studied here. No correlation was found between phenotype and the extent of the deletions.

Cited by 26 publications

References 23 publications

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

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

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

Skin Barrier Function Is Not Impaired andKallikrein7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

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