Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency

Valdés-Flores, Margarita; Vaca, A.L. Jimenez; Rivera-Vega, M.R.; Kofman‐Alfaro, Susana; Cuevas-Covarrubias, Sergio A.

doi:10.1046/j.0022-202x.2001.01507.x

Cited by 4 publications

(1 citation statement)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Nevertheless, this method may misdiagnose some STS mutations, such as: (a) small partial deletions located between the exons analysed (only one such microdeletion has been recognized so far); 21 (b) point mutations with functional implications: twelve have been described to date (Human Gene Mutations Database, to 3 September 2009); (c) the absence of mutations of the STS gene and defects of any others whose disturbance displays an X‐linked ichthyosis phenotype 22 . PCR‐amplification of exons 1, 5 and 10 of STS is therefore of great interest in the screening of RXLI, at least in this Spanish population.…”

Section: Resultsmentioning

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

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

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

View full text Add to dashboard Cite

show abstract

Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase‐deficiency

González-Huerta

Riviera-Vega

Kofman-Alfeuro

et al. 2003

Clinical Endocrinology

View full text Add to dashboard Cite

Somatic and Germinal Mosaicism for the Steroid Sulfatase Gene Deletion in a Steroid Sulfatase Deficiency Carrier

Cuevas-Covarrubias

Jiménez-Vaca

González-Huerta

et al. 2002

Journal of Investigative Dermatology

Self Cite

View full text Add to dashboard Cite

Steroid sulfatase deficiency results in X-linked ichthyosis, an inborn error of metabolism in which the principal molecular defect is the complete deletion of the steroid sulfatase gene and flanking markers. Mosaicism for the steroid sulfatase gene has not yet been reported in X-linked ichthyosis. In this study we describe an X-linked ichthyosis patient with complete deletion of the steroid sulfatase gene and his mother with somatic and germinal mosaicism for this molecular defect. The family (X-linked ichthyosis patient, grandmother, mother, and sister) was analyzed through steroid sulfatase enzyme assay, polymerase chain reaction, DNA markers, and fluorescence in situ hybridization of the steroid sulfatase gene. Steroid sulfatase activity was undetectable in the X-linked ichthyosis patient, very low in the mother, and normal in the grandmother and sister. The X-linked ichthyosis patient showed a 2 Mb deletion of the steroid sulfatase gene and flanking regions from 5'DXS1139 to 3'DXF22S1. The mother showed one copy of the steroid sulfatase gene in 98.5% of oral cells and in 80% of leukocytes. The grandmother and sister showed two copies of the steroid sulfatase gene. The origin of the X chromosome with the deletion of the steroid sulfatase gene corresponded to the grandfather of the proband. We report the first case of somatic and germinal mosaicism of the steroid sulfatase gene in an X-linked ichthyosis carrier and propose DNA slippage as the most plausible mechanism in the genesis of this mosaicism.

show abstract

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency

Cited by 4 publications

References 29 publications

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

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

Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase‐deficiency

Somatic and Germinal Mosaicism for the Steroid Sulfatase Gene Deletion in a Steroid Sulfatase Deficiency Carrier

Contact Info

Product

Resources

About