Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome

Toral-López, Jaime; González-Huerta, Luz María; Cuevas-Covarrubias, Sergio A.

doi:10.1111/j.1365-2133.2007.08405.x

Cited by 13 publications

(6 citation statements)

References 12 publications

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“…[32] A more recent study on seven unrelated sporadic cases of XLI demonstrated, by means of short tandem repeats, the paternal transmission to the mother of the proband in 5 out 7 cases (two cases were uninformative), suggesting that the STS deletion occurred in the male meiosis. [33] In contrast, in our case, the mother of the patient was negative to MLPA analysis indicating that the genomic rearrangement arose in the maternal meiosis. Thus, STS deletion seems to occur much more frequently in male gonads, in keeping with the high number of cell divisions in spermatogenesis.…”

Section: Discussioncontrasting

confidence: 79%

“…A first segregation study reported the paternal origin of the X chromosome transmitted to a daughter with a de novo deletion of STS . A more recent study on seven unrelated sporadic cases of XLI demonstrated, by means of short tandem repeats, the paternal transmission to the mother of the proband in 5 out 7 cases (two cases were uninformative), suggesting that the STS deletion occurred in the male meiosis . In contrast, in our case, the mother of the patient was negative to MLPA analysis indicating that the genomic rearrangement arose in the maternal meiosis.…”

Section: Discussionsupporting

confidence: 64%

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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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Section: Discussioncontrasting

confidence: 79%

Section: Discussionsupporting

confidence: 64%

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

Diociaiuti

Angioni

Pisaneschi

et al. 2018

Experimental Dermatology

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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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“…Several theories have been proposed to explain this phenomenon to date 10 . A recent study has suggested that STS deletion occurs in the male meiosis 11 …”

Section: Introductionmentioning

confidence: 99%

“…10 A recent study has suggested that STS deletion occurs in the male meiosis. 11 The STS gene consists of 10 exons that extend for 146 kb. Up to 90% of the described mutations of this gene are complete deletions.…”

Section: Introductionmentioning

confidence: 99%

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

Cañueto

Ciria

Hernández‐Martín

et al. 2010

Acad Dermatol Venereol

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Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome

Abstract: These data strongly suggest that STS gene deletion occurred in the male meiosis probably due to an intrachromosomal event, recombination between S232 sequences on the same DNA molecule, or during the process of DNA replication.

Cited by 13 publications

References 12 publications

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

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

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

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

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